Hudson Freeze

Title(s)Adjunct Professor, Medicine
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Collapse Research 
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    New Congenital Disorders of Glycosylation: Therapy and Models
    NIH R01DK099551May 1, 2014 - Jun 30, 2023
    Role: Principal Investigator
    An Expanded Spectrum for Congenital Disorders of Glycosylation
    NIH R21HD076358Aug 1, 2013 - Jul 31, 2015
    Role: Principal Investigator
    Novel Therapy for a Human Glycosylation Disorder
    NIH R21HD062914Apr 15, 2010 - Mar 31, 2012
    Role: Principal Investigator
    Testing Substrate-Flux Therapies for Glycosylation Disorders using Zebrafish
    NIH RC1HD064159Sep 30, 2009 - Aug 31, 2012
    Role: Principal Investigator
    Factors Determining Protein Losing Enteropathy
    NIH R01HL086987Apr 1, 2009 - Sep 30, 2013
    Role: Principal Investigator
    Therapeutic Inhibitors of Phosphomannose Isomerase
    NIH R03MH082386Jan 15, 2008 - Jan 31, 2010
    Role: Principal Investigator
    Basis of Post-Fontan Protein Losing Enteropathy
    NIH R21HL078997Dec 15, 2004 - Nov 30, 2007
    Role: Principal Investigator
    Human Glycosylation Disorders 2003
    NIH R13DK067195Mar 5, 2004 - Feb 28, 2005
    Role: Principal Investigator
    Novel Approaches to Mend Deficient Glycosylation
    NIH R01DK065091Aug 1, 2003 - May 31, 2007
    Role: Principal Investigator
    Novel Carboxylated Glycans in Cell Adhesion
    NIH R01CA092608Jul 1, 2002 - Jun 30, 2008
    Role: Principal Investigator
    Novel Carboxylated N-Glycans that Mediate Inflammation
    NIH R21GM065323Apr 1, 2002 - Mar 31, 2005
    Role: Principal Investigator
    CONGENITAL DISORDERS OF GLYCOSYLATION 2000
    NIH R13DK058995Sep 30, 2000 - Sep 29, 2001
    Role: Principal Investigator
    Carbohydrate Deficient Glycoprotein Syndromes: Models and Therapy
    NIH R01DK055615Aug 1, 1999 - Mar 31, 2015
    Role: Principal Investigator
    MANNOSE IN MAMMALIAN GLYCOPROTEIN SYNTHESIS
    NIH R01GM055695Feb 1, 1998 - Jan 31, 2003
    Role: Principal Investigator
    GENES OF PHOSPHORYLATED OLIGOSACCHARIDE BIOSYNTHESIS
    NIH R01GM049096Apr 1, 1993 - Mar 31, 1998
    Role: Principal Investigator
    OLIGOSACCHARIDES OF LYSOSOMAL ENZYMES IN SLIME MOLD
    NIH R01GM032485Sep 1, 1983 - Mar 31, 1999
    Role: Principal Investigator

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    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. Hum Mol Genet. 2022 08 17; 31(15):2571-2581. Wilson MP, Durin Z, Unal Ö, Ng BG, Marrecau T, Keldermans L, Souche E, Rymen D, Gündüz M, Köse G, Sturiale L, Garozzo D, Freeze HH, Jaeken J, Foulquier F, Matthijs G. PMID: 35262690; PMCID: PMC9396942.
      View in: PubMed   Mentions: 1     Fields:    
    2. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. J Med Genet. 2022 Jul 05. Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM, UW Center for Mendelian Genomics, Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. PMID: 35790351.
      View in: PubMed   Mentions:    Fields:    
    3. ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. J Inherit Metab Dis. 2022 09; 45(5):969-980. Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC. PMID: 35716054; PMCID: PMC9474684.
      View in: PubMed   Mentions:    Fields:    
    4. CDG or not CDG. J Inherit Metab Dis. 2022 05; 45(3):383-385. Freeze HH, Jaeken J, Matthijs G. PMID: 35338706; PMCID: PMC9121739.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    5. Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis. JCI Insight. 2021 12 22; 6(24). Klaver EJ, Dukes-Rimsky L, Kumar B, Xia ZJ, Dang T, Lehrman MA, Angel P, Drake RR, Freeze HH, Steet R, Flanagan-Steet H. PMID: 34784297; PMCID: PMC8783681.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    6. Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature. Mol Genet Metab Rep. 2022 Mar; 30:100835. Al-Otaibi A, AlAyed A, Al Madhi A, Saeed L, Ng BG, Freeze HH, Almannai M. PMID: 35242569; PMCID: PMC8856910.
      View in: PubMed   Mentions:
    7. Chemical Therapies for Congenital Disorders of Glycosylation. ACS Chem Biol. 2021 Nov 17. Sosicka P, Ng BG, Freeze HH. PMID: 34788024; PMCID: PMC9126425.
      View in: PubMed   Mentions: 1     Fields:    
    8. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. Am J Hum Genet. 2021 11 04; 108(11):2130-2144. Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. PMID: 34653363; PMCID: PMC8595932.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    9. Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review. J Pediatr Gastroenterol Nutr. 2021 10 01; 73(4):444-454. Colantuono R, D'Acunto E, Melis D, Vajro P, Freeze HH, Mandato C. PMID: 34173795; PMCID: PMC9255677.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    10. Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. Front Genet. 2021; 12:777731. González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. PMID: 34659374; PMCID: PMC8515999.
      View in: PubMed   Mentions:
    11. A Dominant Heterozygous Mutation in COG4 Causes Saul-Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling. Front Cell Dev Biol. 2021; 9:720688. Xia ZJ, Zeng XI, Tambe M, Ng BG, Dong PDS, Freeze HH. PMID: 34595172; PMCID: PMC8476873.
      View in: PubMed   Mentions:
    12. ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. Front Genet. 2021; 12:744884. González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. PMID: 34567092; PMCID: PMC8458739.
      View in: PubMed   Mentions:
    13. SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy. Clin Chim Acta. 2021 Oct; 521:104-106. Raynor A, Haouari W, Ng BG, Cholet S, Harroche A, Raulet-Bussian C, Lounis-Ouaras S, Vuillaumier-Barrot S, Pascreau T, Borgel D, Freeze HH, Fenaille F, Bruneel A. PMID: 34245688; PMCID: PMC9119027.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    14. A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. Am J Hum Genet. 2021 06 03; 108(6):1040-1052. Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, University of Washington Center for Mendelian Genomics (UW-CMG), Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH. PMID: 33964207; PMCID: PMC8206404.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    15. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. J Inherit Metab Dis. 2021 07; 44(4):1001-1012. Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. PMID: 33734437; PMCID: PMC8720508.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    16. Evolutionary conservation of human ketodeoxynonulosonic acid production is independent of sialoglycan biosynthesis. J Clin Invest. 2021 03 01; 131(5). Kawanishi K, Saha S, Diaz S, Vaill M, Sasmal A, Siddiqui SS, Choudhury B, Sharma K, Chen X, Schoenhofen IC, Sato C, Kitajima K, Freeze HH, Münster-Kühnel A, Varki A. PMID: 33373330; PMCID: PMC7919724.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    17. Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis. 2021 07; 44(4):987-1000. Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA, University of Washington Center for Mendelian Genomics (UW-CMG), Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C. PMID: 33583022; PMCID: PMC8282734.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    18. Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. Orphanet J Rare Dis. 2021 02 25; 16(1):102. Witters P, Edmondson AC, Lam C, Johnsen C, Patterson MC, Raymond KM, He M, Freeze HH, Morava E. PMID: 33632285; PMCID: PMC7908710.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    19. Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? Epilepsia. 2021 02; 62(2):335-336. Berry GT, Freeze HH, Morava E. PMID: 33576051; PMCID: PMC8100982.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    20. Biosynthesis of GlcNAc-rich N- and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3. J Biol Chem. 2020 11 27; 295(48):16445-16463. Szulc B, Sosicka P, Maszczak-Seneczko D, Skurska E, Shauchuk A, Olczak T, Freeze HH, Olczak M. PMID: 32938718; PMCID: PMC7705316.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    21. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021 01; 44(1):148-163. Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. PMID: 32681750; PMCID: PMC7855268.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    22. MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature. JIMD Rep. 2020 Nov; 56(1):20-26. Abdel Ghaffar TY, Ng BG, Elsayed SM, El Naghi S, Helmy S, Mohammed N, El Hennawy A, Freeze HH. PMID: 33204592; PMCID: PMC7653262.
      View in: PubMed   Mentions: 1  
    23. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 11; 43(6):1333-1348. Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. PMID: 32681751; PMCID: PMC7722193.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    24. A mutation map for human glycoside hydrolase genes. Glycobiology. 2020 07 16; 30(8):500-515. Hansen L, Husein DM, Gericke B, Hansen T, Pedersen O, Tambe MA, Freeze HH, Naim HY, Henrissat B, Wandall HH, Clausen H, Bennett EP. PMID: 32039448; PMCID: PMC7372926.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    25. Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. J Inherit Metab Dis. 2020 09; 43(5):1037-1045. Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR, Undiagnosed Diseases Network, Gahl WA, Bamshad MJ, Nickerson DA, Malicdan MCV, Freeze HH. PMID: 32395830; PMCID: PMC7508799.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    26. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genet Med. 2020 10; 22(10):1598-1605. Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S. PMID: 32461667; PMCID: PMC7521996.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    27. Golgi Acidification by NHE7 Regulates Cytosolic pH Homeostasis in Pancreatic Cancer Cells. Cancer Discov. 2020 06; 10(6):822-835. Galenkamp KMO, Sosicka P, Jung M, Recouvreux MV, Zhang Y, Moldenhauer MR, Brandi G, Freeze HH, Commisso C. PMID: 32200349; PMCID: PMC7269827.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    28. Expanding the molecular and clinical phenotypes of FUT8-CDG. J Inherit Metab Dis. 2020 07; 43(4):871-879. Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH. PMID: 32049367; PMCID: PMC7359201.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    29. Defining the clinical phenotype of Saul-Wilson syndrome. Genet Med. 2020 05; 22(5):857-866. Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. PMID: 31949312; PMCID: PMC7205587.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    30. XMEN: welcome to the glycosphere. J Clin Invest. 2020 01 02; 130(1):80-82. Freeze HH. PMID: 31815737; PMCID: PMC6934210.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    31. N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity. Cell Rep. 2019 12 24; 29(13):4620-4631.e4. Tambe MA, Ng BG, Freeze HH. PMID: 31875565.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    32. Improving biochemical markers for disorders of N-glycosylation. Ann Transl Med. 2019 Sep; 7(Suppl 6):S176. Freeze HH. PMID: 31656755; PMCID: PMC6789335.
      View in: PubMed   Mentions: 2  
    33. Therapeutic Monosaccharides: Looking Back, Moving Forward. Biochemistry. 2020 09 01; 59(34):3064-3077. Sosicka P, Ng BG, Freeze HH. PMID: 31398011; PMCID: PMC7282196.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    34. Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing. Dis Model Mech. 2019 06 05; 12(6). Klaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R. PMID: 31101650; PMCID: PMC6602306.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    35. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. PMID: 30817854; PMCID: PMC6661012.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    36. Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation. J Inherit Metab Dis. 2019 09; 42(5):993-997. Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Freeze HH. PMID: 30945312; PMCID: PMC6739144.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    37. Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. J Inherit Metab Dis. 2019 05; 42(3):553-564. Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI, EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K. PMID: 30746764.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    38. Factor VIII and vWF deficiency in STT3A-CDG. J Inherit Metab Dis. 2019 03; 42(2):325-332. Chang IJ, Byers HM, Ng BG, Merritt JL, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C. PMID: 30701557; PMCID: PMC6658093.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    39. ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 03; 179(3):498-502. Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. PMID: 30676690; PMCID: PMC6426632.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    40. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019 01; 42(1):5-28. Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. PMID: 30740725.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCells
    41. Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation. Pediatr Neurol. 2019 05; 94:64-69. Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR. PMID: 30770273; PMCID: PMC6450714.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    42. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 12 06; 103(6):1030-1037. Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HH. PMID: 30503518; PMCID: PMC6288200.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    43. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 10 04; 103(4):553-567. Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Undiagnosed Diseases Network, Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. PMID: 30290151; PMCID: PMC6174323.
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    44. Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism. Cell Rep. 2018 09 18; 24(12):3087-3098. Sharma V, Smolin J, Nayak J, Ayala JE, Scott DA, Peterson SN, Freeze HH. PMID: 30231992; PMCID: PMC6207501.
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    45. Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import. Nat Commun. 2018 09 14; 9(1):3765. Nguyen D, Stutz R, Schorr S, Lang S, Pfeffer S, Freeze HH, Förster F, Helms V, Dudek J, Zimmermann R. PMID: 30217974; PMCID: PMC6138672.
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    46. DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. JIMD Rep. 2019; 44:85-92. Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Freeze HH, Eklund EA. PMID: 30117111; PMCID: PMC6323016.
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    47. Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. Glycobiology. 2018 05 01; 28(5):276-283. Takeuchi H, Wong D, Schneider M, Freeze HH, Takeuchi M, Berardinelli SJ, Ito A, Lee H, Nelson SF, Haltiwanger RS. PMID: 29452367; PMCID: PMC6057529.
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    48. Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases. Glycobiology. 2018 05 01; 28(5):284-294. Joshi HJ, Hansen L, Narimatsu Y, Freeze HH, Henrissat B, Bennett E, Wandall HH, Clausen H, Schjoldager KT. PMID: 29579191; PMCID: PMC6279177.
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    49. The Art of Science Communication-A Novel Approach to Science Communication Training. J Microbiol Biol Educ. 2018; 19(1). Greer S, Alexander H, Baldwin TO, Freeze HH, Thompson M, Hunt G, Snowflack DR. PMID: 29904522; PMCID: PMC5969408.
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    50. Perspectives on Glycosylation and Its Congenital Disorders. Trends Genet. 2018 06; 34(6):466-476. Ng BG, Freeze HH. PMID: 29606283; PMCID: PMC5959770.
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    51. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Mol Genet Metab. 2018 05; 124(1):82-86. Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. PMID: 29550355.
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    52. Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation. Orphanet J Rare Dis. 2018 01 10; 13(1):4. Vajro P, Zielinska K, Ng BG, Maccarana M, Bengtson P, Poeta M, Mandato C, D'Acunto E, Freeze HH, Eklund EA. PMID: 29321044; PMCID: PMC5763540.
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    53. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. Am J Hum Genet. 2018 01 04; 102(1):188-195. Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH. PMID: 29304374; PMCID: PMC5777984.
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    54. Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. Am J Med Genet A. 2017 Nov; 173(11):2906-2911. Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Ensslen M, Freeze HH. PMID: 28856833; PMCID: PMC5650519.
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    55. Shake up conferences. Nature. 2017 08 09; 548(7666):153-154. Silberberg SD, Crawford DC, Finkelstein R, Koroshetz WJ, Blank RD, Freeze HH, Garrison HH, Seger YR. PMID: 28796229.
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    56. MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect. Elife. 2017 06 23; 6. Shtraizent N, DeRossi C, Nayar S, Sachidanandam R, Katz LS, Prince A, Koh AP, Vincek A, Hadas Y, Hoshida Y, Scott DK, Eliyahu E, Freeze HH, Sadler KC, Chu J. PMID: 28644127; PMCID: PMC5495572.
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    57. A "Glyconutrient Sham" and the Jenner Glycobiology and Medicine Symposium. Glycobiology. 2017 05 01; 27(5):383-384. Schnaar RL, Freeze HH. PMID: 28384366.
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    58. Dissecting the molecular organization of the translocon-associated protein complex. Nat Commun. 2017 02 20; 8:14516. Pfeffer S, Dudek J, Schaffer M, Ng BG, Albert S, Plitzko JM, Baumeister W, Zimmermann R, Freeze HH, Engel BD, Förster F. PMID: 28218252; PMCID: PMC5321747.
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    59. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 05; 34:84-90. Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Van Hove JLK, Freeze HH, Abdenur JE. PMID: 28216230; PMCID: PMC5444868.
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    60. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A. 2016 12; 170(12):3165-3171. Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH. PMID: 27480077; PMCID: PMC5115938.
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    61. Perhaps a wee bit of sugar would help. Nat Genet. 2016 06 28; 48(7):705-7. Freeze HH. PMID: 27350601; PMCID: PMC5428893.
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    63. A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. Hum Mol Genet. 2016 06 01; 25(11):2182-2193. Chan B, Clasquin M, Smolen GA, Histen G, Powe J, Chen Y, Lin Z, Lu C, Liu Y, Cang Y, Yan Z, Xia Y, Thompson R, Singleton C, Dorsch M, Silverman L, Su SM, Freeze HH, Jin S. PMID: 27053713; PMCID: PMC5081049.
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    64. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH. PMID: 26931382; PMCID: PMC4907823.
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    65. trappc11 is required for protein glycosylation in zebrafish and humans. Mol Biol Cell. 2016 Apr 15; 27(8):1220-34. DeRossi C, Vacaru A, Rafiq R, Cinaroglu A, Imrie D, Nayar S, Baryshnikova A, Milev MP, Stanga D, Kadakia D, Gao N, Chu J, Freeze HH, Lehrman MA, Sacher M, Sadler KC. PMID: 26912795; PMCID: PMC4831877.
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    66. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. Am J Hum Genet. 2016 Feb 04; 98(2):339-46. Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y, NISC Comparative Sequencing Program, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. PMID: 26805780; PMCID: PMC4746335.
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    67. The transcription factor ATF2 promotes melanoma metastasis by suppressing protein fucosylation. Sci Signal. 2015 Dec 08; 8(406):ra124. Lau E, Feng Y, Claps G, Fukuda MN, Perlina A, Donn D, Jilaveanu L, Kluger H, Freeze HH, Ronai ZA. PMID: 26645581; PMCID: PMC4818095.
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    68. Symbol Nomenclature for Graphical Representations of Glycans. Glycobiology. 2015 Dec; 25(12):1323-4. Varki A, Cummings RD, Aebi M, Packer NH, Seeberger PH, Esko JD, Stanley P, Hart G, Darvill A, Kinoshita T, Prestegard JJ, Schnaar RL, Freeze HH, Marth JD, Bertozzi CR, Etzler ME, Frank M, Vliegenthart JF, Lütteke T, Perez S, Bolton E, Rudd P, Paulson J, Kanehisa M, Toukach P, Aoki-Kinoshita KF, Dell A, Narimatsu H, York W, Taniguchi N, Kornfeld S. PMID: 26543186; PMCID: PMC4643639.
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    69. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. Clin Chem. 2016 Jan; 62(1):208-17. Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M. PMID: 26430078; PMCID: PMC4819965.
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    70. Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG. J Inherit Metab Dis. 2016 Jan; 39(1):107-14. Bengtson P, Ng BG, Jaeken J, Matthijs G, Freeze HH, Eklund EA. PMID: 26335155; PMCID: PMC4822552.
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    71. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat. 2015 Nov; 36(11):1048-51. Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. PMID: 26264460; PMCID: PMC4604052.
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    72. A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology. 2015 Aug; 25(8):836-44. He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, Freeze HH. PMID: 25900930; PMCID: PMC4487302.
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    73. Neurological aspects of human glycosylation disorders. Annu Rev Neurosci. 2015 Jul 08; 38:105-25. Freeze HH, Eklund EA, Ng BG, Patterson MC. PMID: 25840006; PMCID: PMC4809143.
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    74. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Hum Mol Genet. 2015 Jun 01; 24(11):3050-7. Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH. PMID: 25678555; PMCID: PMC4424951.
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    75. A glycogene mutation map for discovery of diseases of glycosylation. Glycobiology. 2015 Feb; 25(2):211-24. Hansen L, Lind-Thomsen A, Joshi HJ, Pedersen NB, Have CT, Kong Y, Wang S, Sparso T, Grarup N, Vester-Christensen MB, Schjoldager K, Freeze HH, Hansen T, Pedersen O, Henrissat B, Mandel U, Clausen H, Wandall HH, Bennett EP. PMID: 25267602; PMCID: PMC4351397.
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    76. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet. 2015 Jan; 58(1):39-43. Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. PMID: 25220016; PMCID: PMC4804755.
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    77. Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL). J Inherit Metab Dis. 2015 Jan; 38(1):171-8. Ng BG, Freeze HH. PMID: 25164783; PMCID: PMC4373530.
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    78. Mannose metabolism: more than meets the eye. Biochem Biophys Res Commun. 2014 Oct 17; 453(2):220-8. Sharma V, Ichikawa M, Freeze HH. PMID: 24931670; PMCID: PMC4252654.
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    79. ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA. Mol Genet Metab Rep. 2014; 1:203-212. Bahena-Bahena D, López-Valdez J, Raymond K, Salinas-Marín R, Ortega-García A, Ng BG, Freeze HH, Ruíz-García M, Martínez-Duncker I. PMID: 27896089; PMCID: PMC5121299.
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    81. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014 May; 133(5):1400-9, 1409.e1-5. Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD. PMID: 24589341; PMCID: PMC4016982.
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    83. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet. 2014 Feb 06; 94(2):161-75. Freeze HH, Chong JX, Bamshad MJ, Ng BG. PMID: 24507773; PMCID: PMC3928651.
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    84. N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response. Glycobiology. 2014 Apr; 24(4):392-8. He P, Srikrishna G, Freeze HH. PMID: 24474243; PMCID: PMC3954120.
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    85. Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice. FASEB J. 2014 Apr; 28(4):1854-69. Sharma V, Nayak J, DeRossi C, Charbono A, Ichikawa M, Ng BG, Grajales-Esquivel E, Srivastava A, Wang L, He P, Scott DA, Russell J, Contreras E, Guess CM, Krajewski S, Del Rio-Tsonis K, Freeze HH. PMID: 24421398; PMCID: PMC3963023.
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    86. The metabolic origins of mannose in glycoproteins. J Biol Chem. 2014 Mar 07; 289(10):6751-6761. Ichikawa M, Scott DA, Losfeld ME, Freeze HH. PMID: 24407290; PMCID: PMC3945336.
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    87. Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation. Mol Brain. 2013 Dec 04; 6:52. Sun L, Zhao Y, Zhou K, Freeze HH, Zhang YW, Xu H. PMID: 24305089; PMCID: PMC3907076.
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    88. Metabolically programmed quality control system for dolichol-linked oligosaccharides. Proc Natl Acad Sci U S A. 2013 Nov 26; 110(48):19366-71. Harada Y, Nakajima K, Masahara-Negishi Y, Freeze HH, Angata T, Taniguchi N, Suzuki T. PMID: 24218558; PMCID: PMC3845098.
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    89. A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet. 2014 Mar 15; 23(6):1602-5. Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Freeze HH. PMID: 24218363; PMCID: PMC3929095.
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    90. Dissecting functions of the conserved oligomeric Golgi tethering complex using a cell-free assay. Traffic. 2014 Jan; 15(1):12-21. Cottam NP, Wilson KM, Ng BG, Körner C, Freeze HH, Ungar D. PMID: 24102787; PMCID: PMC3892563.
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    91. Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013 Dec; 110(4):484-9. Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. PMID: 24144945; PMCID: PMC3909743.
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    92. Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes. Traffic. 2013 Oct; 14(10):1065-77. Laufman O, Freeze HH, Hong W, Lev S. PMID: 23865579; PMCID: PMC4084554.
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    93. Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013 Nov 15; 22(22):4638-45. Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH. PMID: 23842455; PMCID: PMC3888133.
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    94. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab. 2013 Nov; 110(3):345-351. Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L. PMID: 23856421; PMCID: PMC3800268.
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    96. Understanding human glycosylation disorders: biochemistry leads the charge. J Biol Chem. 2013 Mar 08; 288(10):6936-45. Freeze HH. PMID: 23329837; PMCID: PMC3591604.
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    97. A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency. Mol Biol Cell. 2012 Nov; 23(21):4175-87. Cline A, Gao N, Flanagan-Steet H, Sharma V, Rosa S, Sonon R, Azadi P, Sadler KC, Freeze HH, Lehrman MA, Steet R. PMID: 22956764; PMCID: PMC3484097.
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    99. HNF4α antagonists discovered by a high-throughput screen for modulators of the human insulin promoter. Chem Biol. 2012 Jul 27; 19(7):806-18. Kiselyuk A, Lee SH, Farber-Katz S, Zhang M, Athavankar S, Cohen T, Pinkerton AB, Ye M, Bushway P, Richardson AD, Hostetler HA, Rodriguez-Lee M, Huang L, Spangler B, Smith L, Higginbotham J, Cashman J, Freeze H, Itkin-Ansari P, Dawson MI, Schroeder F, Cang Y, Mercola M, Levine F. PMID: 22840769; PMCID: PMC3447631.
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    100. A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy. FASEB J. 2012 Oct; 26(10):4210-7. Losfeld ME, Soncin F, Ng BG, Singec I, Freeze HH. PMID: 22691915; PMCID: PMC3448770.
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    101. TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet. 2012 Jul 13; 91(1):15-26. Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G. PMID: 22683087; PMCID: PMC3397274.
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    102. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012 May; 11(5):453-66. Freeze HH, Eklund EA, Ng BG, Patterson MC. PMID: 22516080; PMCID: PMC3625645.
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    103. Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells. J Biol Chem. 2012 May 25; 287(22):18210-7. He P, Ng BG, Losfeld ME, Zhu W, Freeze HH. PMID: 22496445; PMCID: PMC3365753.
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    104. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet. 2012 Apr 06; 90(4):685-8. Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. PMID: 22444671; PMCID: PMC3322218.
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    105. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet. 2012 Feb 10; 90(2):363-8. Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR. PMID: 22305527; PMCID: PMC3276676.
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    106. Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet Med. 2011 Nov; 13(11):921-32. Jones MA, Bhide S, Chin E, Ng BG, Rhodenizer D, Zhang VW, Sun JJ, Tanner A, Freeze HH, Hegde MR. PMID: 21811164; PMCID: PMC3398737.
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    107. Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. J Biol Chem. 2011 Nov 11; 286(45):39431-8. Sharma V, Ichikawa M, He P, Scott DA, Bravo Y, Dahl R, Ng BG, Cosford ND, Freeze HH. PMID: 21949237; PMCID: PMC3234766.
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    108. Golgi glycosylation and human inherited diseases. Cold Spring Harb Perspect Biol. 2011 Sep 01; 3(9):a005371. Freeze HH, Ng BG. PMID: 21709180; PMCID: PMC3181031.
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    109. Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia. J Med Chem. 2011 May 26; 54(10):3661-8. Dahl R, Bravo Y, Sharma V, Ichikawa M, Dhanya RP, Hedrick M, Brown B, Rascon J, Vicchiarelli M, Mangravita-Novo A, Yang L, Stonich D, Su Y, Smith LH, Sergienko E, Freeze HH, Cosford ND. PMID: 21539312; PMCID: PMC3437750.
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    110. Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Mol Genet Metab. 2011 May; 103(1):101-3. Miller BS, Freeze HH, Hoffmann GF, Sarafoglou K. PMID: 21334936; PMCID: PMC3869397.
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    111. Mannose efflux from the cells: a potential source of mannose in blood. J Biol Chem. 2011 Mar 25; 286(12):10193-200. Sharma V, Freeze HH. PMID: 21273394; PMCID: PMC3060472.
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    112. Identification of the first COG-CDG patient of Indian origin. Mol Genet Metab. 2011 Mar; 102(3):364-7. Ng BG, Sharma V, Sun L, Loh E, Hong W, Tay SK, Freeze HH. PMID: 21185756; PMCID: PMC3058693.
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    113. Endoglycosidase and glycoamidase release of N-linked glycans. Curr Protoc Protein Sci. 2010 Nov; Chapter 12:Unit12.4. Freeze HH, Kranz C. PMID: 21104982.
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    114. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010 Jul 23; 142(2):203-17. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. PMID: 20637498; PMCID: PMC2940322.
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    115. Spatial regulation of Golgi phosphatidylinositol-4-phosphate is required for enzyme localization and glycosylation fidelity. Traffic. 2010 Sep; 11(9):1180-90. Cheong FY, Sharma V, Blagoveshchenskaya A, Oorschot VM, Brankatschk B, Klumperman J, Freeze HH, Mayinger P. PMID: 20573065; PMCID: PMC2921771.
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    116. Carboxylated N-glycans on RAGE promote S100A12 binding and signaling. J Cell Biochem. 2010 Jun 01; 110(3):645-59. Srikrishna G, Nayak J, Weigle B, Temme A, Foell D, Hazelwood L, Olsson A, Volkmann N, Hanein D, Freeze HH. PMID: 20512925; PMCID: PMC2879712.
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    117. Molecular imaging of N-linked glycosylation suggests glycan biosynthesis is a novel target for cancer therapy. Clin Cancer Res. 2010 Jun 15; 16(12):3205-14. Contessa JN, Bhojani MS, Freeze HH, Ross BD, Rehemtulla A, Lawrence TS. PMID: 20413434; PMCID: PMC3413408.
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    118. Metabolic manipulation of glycosylation disorders in humans and animal models. Semin Cell Dev Biol. 2010 Aug; 21(6):655-62. Freeze HH, Sharma V. PMID: 20363348; PMCID: PMC2917643.
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    120. Achondrogenesis type 1A--from mouse to human. N Engl J Med. 2010 Jan 21; 362(3):266-7. Freeze HH. PMID: 20089978.
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    121. Endoglycosidase and glycoamidase release of N-linked glycans. Curr Protoc Mol Biol. 2010 Jan; Chapter 17:Unit 17.13A. Freeze HH, Kranz C. PMID: 20069534; PMCID: PMC3869378.
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    122. Symbol nomenclature for glycan representation. Proteomics. 2009 Dec; 9(24):5398-9. Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Marth JD, Bertozzi CR, Hart GW, Etzler ME. PMID: 19902428; PMCID: PMC2882983.
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    124. Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. Biochim Biophys Acta. 2009 Sep; 1792(9):835-40. Freeze HH. PMID: 19339218; PMCID: PMC2783247.
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    125. CDG nomenclature: time for a change! Biochim Biophys Acta. 2009 Sep; 1792(9):825-6. Jaeken J, Hennet T, Matthijs G, Freeze HH. PMID: 19765534; PMCID: PMC3917312.
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    126. Overview of glycoconjugate analysis. Curr Protoc Protein Sci. 2009 Aug; Chapter 12:Unit 12.1 12.1.1-8. Varki A, Freeze HH, Manzi AE. PMID: 19688734; PMCID: PMC2749716.
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    127. Endogenous damage-associated molecular pattern molecules at the crossroads of inflammation and cancer. Neoplasia. 2009 Jul; 11(7):615-28. Srikrishna G, Freeze HH. PMID: 19568407; PMCID: PMC2697348.
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    128. Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts. Mol Genet Metab. 2009 Apr; 96(4):268-72. Higashidani A, Bode L, Nishikawa A, Freeze HH. PMID: 19157945; PMCID: PMC2676341.
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    129. Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus. Am J Clin Nutr. 2009 Feb; 89(2):592-600. Amadi B, Fagbemi AO, Kelly P, Mwiya M, Torrente F, Salvestrini C, Day R, Golden MH, Eklund EA, Freeze HH, Murch SH. PMID: 19116330.
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    130. Stimulation of chondrocyte-mediated cartilage destruction by S100A8 in experimental murine arthritis. Arthritis Rheum. 2008 Dec; 58(12):3776-87. van Lent PL, Grevers LC, Blom AB, Arntz OJ, van de Loo FA, van der Kraan P, Abdollahi-Roodsaz S, Srikrishna G, Freeze H, Sloetjes A, Nacken W, Vogl T, Roth J, van den Berg WB. PMID: 19035520.
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    131. Glycosylation diseases: quo vadis? Biochim Biophys Acta. 2009 Sep; 1792(9):925-30. Schachter H, Freeze HH. PMID: 19061954; PMCID: PMC3927646.
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    132. Endoglycosidase and glycoamidase release of N-linked glycans. Curr Protoc Immunol. 2008 Nov; Chapter 8:Unit 8.15. Freeze HH, Kranz C. PMID: 19016451.
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    133. On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis. 2008 Dec; 31(6):669-72. Jaeken J, Hennet T, Freeze HH, Matthijs G. PMID: 18949576.
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    134. Proinflammatory S100 proteins regulate the accumulation of myeloid-derived suppressor cells. J Immunol. 2008 Oct 01; 181(7):4666-75. Sinha P, Okoro C, Foell D, Freeze HH, Ostrand-Rosenberg S, Srikrishna G. PMID: 18802069; PMCID: PMC2810501.
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    135. RAGE, carboxylated glycans and S100A8/A9 play essential roles in colitis-associated carcinogenesis. Carcinogenesis. 2008 Oct; 29(10):2035-43. Turovskaya O, Foell D, Sinha P, Vogl T, Newlin R, Nayak J, Nguyen M, Olsson A, Nawroth PP, Bierhaus A, Varki N, Kronenberg M, Freeze HH, Srikrishna G. PMID: 18689872; PMCID: PMC2556970.
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    136. Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells. Cancer Res. 2008 May 15; 68(10):3803-9. Contessa JN, Bhojani MS, Freeze HH, Rehemtulla A, Lawrence TS. PMID: 18483264; PMCID: PMC3696581.
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    137. Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib. Nat Clin Pract Gastroenterol Hepatol. 2008 Apr; 5(4):220-4. Liem YS, Bode L, Freeze HH, Leebeek FW, Zandbergen AA, Paul Wilson J. PMID: 18285818.
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    138. The relative contribution of mannose salvage pathways to glycosylation in PMI-deficient mouse embryonic fibroblast cells. FEBS J. 2008 Feb; 275(4):788-98. Fujita N, Tamura A, Higashidani A, Tonozuka T, Freeze HH, Nishikawa A. PMID: 18215164.
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    139. Heparan sulfate and syndecan-1 are essential in maintaining murine and human intestinal epithelial barrier function. J Clin Invest. 2008 Jan; 118(1):229-38. Bode L, Salvestrini C, Park PW, Li JP, Esko JD, Yamaguchi Y, Murch S, Freeze HH. PMID: 18064305; PMCID: PMC2117765.
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    140. A "glyconutrient sham". Glycobiology. 2008 Sep; 18(9):652-7; discussion 658-63. Schnaar RL, Freeze HH. PMID: 17855741.
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    141. CDG-Id in two siblings with partially different phenotypes. Am J Med Genet A. 2007 Jul 01; 143A(13):1414-20. Kranz C, Sun L, Eklund EA, Krasnewich D, Casey JR, Freeze HH. PMID: 17551933.
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    142. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A. 2007 Jun 15; 143A(12):1371-8. Kranz C, Basinger AA, Güçsavas-Calikoglu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH. PMID: 17506107.
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    143. Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development. Mol Cell Biol. 2007 Aug; 27(16):5849-59. Greig KT, Antonchuk J, Metcalf D, Morgan PO, Krebs DL, Zhang JG, Hacking DF, Bode L, Robb L, Kranz C, de Graaf C, Bahlo M, Nicola NA, Nutt SL, Freeze HH, Alexander WS, Hilton DJ, Kile BT. PMID: 17548465; PMCID: PMC1952135.
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    144. Novel perspectives on glycosylation and human disease. Curr Mol Med. 2007 Jun; 7(4):387. Freeze HH. PMID: 17584078.
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    145. Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond. Curr Mol Med. 2007 Jun; 7(4):389-96. Freeze HH. PMID: 17584079.
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    146. Molecular and clinical characterization of a Moroccan Cog7 deficient patient. Mol Genet Metab. 2007 Jun; 91(2):201-4. Ng BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, Freeze HH. PMID: 17395513; PMCID: PMC1941618.
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    147. COG8 deficiency causes new congenital disorder of glycosylation type IIh. Hum Mol Genet. 2007 Apr 01; 16(7):731-41. Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel RD, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH. PMID: 17331980.
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    148. Endoglycosidase and glycoamidase release of N-linked oligosaccharides. Curr Protoc Protein Sci. 2006 Sep; Chapter 12:Unit 12.4. Freeze HH, Kranz C. PMID: 18429294.
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    149. Protein-losing enteropathy after fontan operation: investigations into possible pathophysiologic mechanisms. Ann Thorac Surg. 2006 Aug; 82(2):695-700. Ostrow AM, Freeze H, Rychik J. PMID: 16863787.
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    150. Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation. Pediatrics. 2006 Aug; 118(2):e514-21. Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA. PMID: 16816004.
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    151. Genetic defects in the human glycome. Nat Rev Genet. 2006 Jul; 7(7):537-51. Freeze HH. PMID: 16755287.
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    152. The Nuclear Overhauser Effect in the lead identification process. Curr Drug Discov Technol. 2006 Jun; 3(2):91-100. Leone M, Freeze HH, Chan CS, Pellecchia M. PMID: 16925517.
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    153. The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx. 2006 Apr; 3(2):254-63. Eklund EA, Freeze HH. PMID: 16554263; PMCID: PMC3593443.
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    154. Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. Pediatr Res. 2006 Feb; 59(2):293-8. Mandato C, Brive L, Miura Y, Davis JA, Di Cosmo N, Lucariello S, Pagliardini S, Seo NS, Parenti G, Vecchione R, Freeze HH, Vajro P. PMID: 16439595.
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    157. Applied glycoproteomics--approaches to study genetic-environmental collisions causing protein-losing enteropathy. Biochim Biophys Acta. 2006 Apr; 1760(4):547-59. Bode L, Freeze HH. PMID: 16380211.
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    158. Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality. J Biol Chem. 2006 Mar 03; 281(9):5916-27. DeRossi C, Bode L, Eklund EA, Zhang F, Davis JA, Westphal V, Wang L, Borowsky AD, Freeze HH. PMID: 16339137.
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    168. Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy. Am J Physiol Gastrointest Liver Physiol. 2005 May; 288(5):G1015-23. Bode L, Eklund EA, Murch S, Freeze HH. PMID: 15604198.
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    173. Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Hum Mutat. 2003 Nov; 22(5):420-1. Westphal V, Xiao M, Kwok PY, Freeze HH. PMID: 14517965.
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    174. Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat. 2003 Aug; 22(2):144-50. Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH. PMID: 12872255.
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    175. Congenital disorder of glycosylation Ic in patients of Indian origin. Mol Genet Metab. 2003 Jul; 79(3):221-8. Newell JW, Seo NS, Enns GM, McCraken M, Mantovani JF, Freeze HH. PMID: 12855228.
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    176. Mass spectrometry provides sweet inspiration. Nat Biotechnol. 2003 Jun; 21(6):627-9. Freeze H. PMID: 12776147.
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    177. Glycobiology of neuromuscular disorders. Glycobiology. 2003 Aug; 13(8):67R-75R. Martin PT, Freeze HH. PMID: 12736200.
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    178. New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system. Rev Endocr Metab Disord. 2003 Mar; 4(1):103-13. Miller BS, Freeze HH. PMID: 12618564.
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    179. Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib. Anal Chem. 2003 Jan 01; 75(1):42-8. Li Y, Ogata Y, Freeze HH, Scott CR, Turecek F, Gelb MH. PMID: 12530817.
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    180. Human disorders in N-glycosylation and animal models. Biochim Biophys Acta. 2002 Dec 19; 1573(3):388-93. Freeze HH. PMID: 12417423.
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    181. GLUT14, a duplicon of GLUT3, is specifically expressed in testis as alternative splice forms. Genomics. 2002 Dec; 80(6):553-7. Wu X, Freeze HH. PMID: 12504846.
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    182. Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr. 2002 Nov; 141(5):695-700. Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L. PMID: 12410200.
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    183. Sweet solution: sugars to the rescue. J Cell Biol. 2002 Aug 19; 158(4):615-6. Freeze HH. PMID: 12186848; PMCID: PMC2174005.
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    184. Molecular cloning, gene organization, and expression of mouse Mpi encoding phosphomannose isomerase. Glycobiology. 2002 Jul; 12(7):435-42. Davis JA, Wu XH, Wang L, DeRossi C, Westphal V, Wu R, Alton G, Srikrishna G, Freeze HH. PMID: 12122025.
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    185. Cloning and characterization of glucose transporter 11, a novel sugar transporter that is alternatively spliced in various tissues. Mol Genet Metab. 2002 May; 76(1):37-45. Wu X, Li W, Sharma V, Godzik A, Freeze HH. PMID: 12175779.
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    186. Extension of lipid-linked oligosaccharides is a high-priority aspect of the unfolded protein response: endoplasmic reticulum stress in Type I congenital disorder of glycosylation fibroblasts. Glycobiology. 2002 May; 12(5):307-17. Shang J, Körner C, Freeze H, Lehrman MA. PMID: 12070073.
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    187. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum Mol Genet. 2002 Mar 01; 11(5):599-604. Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH. PMID: 11875054.
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    188. N -Glycans on the receptor for advanced glycation end products influence amphoterin binding and neurite outgrowth. J Neurochem. 2002 Mar; 80(6):998-1008. Srikrishna G, Huttunen HJ, Johansson L, Weigle B, Yamaguchi Y, Rauvala H, Freeze HH. PMID: 11953450.
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    189. Structure-activity profiles of complex biantennary glycans with core fucosylation and with/without additional alpha 2,3/alpha 2,6 sialylation: synthesis of neoglycoproteins and their properties in lectin assays, cell binding, and organ uptake. J Med Chem. 2002 Jan 17; 45(2):478-91. Unverzagt C, André S, Seifert J, Kojima S, Fink C, Srikrishna G, Freeze H, Kayser K, Gabius HJ. PMID: 11784152.
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    190. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). J Clin Invest. 2001 Dec; 108(11):1613-9. Kranz C, Denecke J, Lehrman MA, Ray S, Kienz P, Kreissel G, Sagi D, Peter-Katalinic J, Freeze HH, Schmid T, Jackowski-Dohrmann S, Harms E, Marquardt T. PMID: 11733556; PMCID: PMC200991.
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    191. Update and perspectives on congenital disorders of glycosylation. Glycobiology. 2001 Dec; 11(12):129R-143R. Freeze HH. PMID: 11805072.
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    192. The pathology of N-glycosylation--stay the middle, avoid the risks. Glycobiology. 2001 Dec; 11(12):37G-38G. Freeze HH. PMID: 11855366.
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    193. Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. Genet Med. 2001 Nov-Dec; 3(6):393-8. Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH. PMID: 11715002.
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    194. Congenital disorders of glycosylation and the pediatric liver. Semin Liver Dis. 2001 Nov; 21(4):501-15. Freeze HH. PMID: 11745038.
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    195. Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse. Biochim Biophys Acta. 2001 Oct 03; 1528(2-3):116-26. Davis JA, Freeze HH. PMID: 11687298.
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    196. Balancing N-linked glycosylation to avoid disease. Biochimie. 2001 Aug; 83(8):791-9. Freeze HH, Westphal V. PMID: 11530212.
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    197. Intact Golgi synthesize complex branched O-linked chains on glycoside primers: evidence for the functional continuity of seven glycosyltransferases and three sugar nucleotide transporters. Glycoconj J. 2001 Aug; 18(8):623-33. Kim S, Miura Y, Etchison JR, Freeze HH. PMID: 12376727.
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    198. Use of glycosidases to study protein trafficking. Curr Protoc Cell Biol. 2001 May; Chapter 15:Unit 15.2. Freeze HH. PMID: 18228329.
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    199. Overview of glycoconjugate analysis. Curr Protoc Protein Sci. 2001 May; Chapter 12:Unit 12.1. Varki A, Freeze HH, Manzi AE. PMID: 18429108.
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    200. Release of saccharides from glycoconjugates. Curr Protoc Immunol. 2001 May; Chapter 8:Unit 8.15. Powell LD, Varki AP, Freeze HH. PMID: 18432855.
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    201. Special considerations for glycoproteins and their purification. Curr Protoc Mol Biol. 2001 May; Chapter 17:Unit17.1. Freeze HH. PMID: 18265136.
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    202. Endoglycosidase and glycoamidase release of N-linked oligosaccharides. Curr Protoc Mol Biol. 2001 May; Chapter 17:Unit17.13A. Freeze HH. PMID: 18265141.
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    203. Analysis of sulfate esters by solvolysis or hydrolysis. Curr Protoc Mol Biol. 2001 May; Chapter 17:Unit17.23. Freeze HH. PMID: 18265159.
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    204. Lectin analysis of proteins blotted onto filters. Curr Protoc Mol Biol. 2001 May; Chapter 17:Unit17.7. Freeze HH. PMID: 18265163.
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    205. Lectin affinity chromatography. Curr Protoc Protein Sci. 2001 May; Chapter 9:Unit 9.1. Freeze HH. PMID: 18429210.
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    206. Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. Mol Genet Metab. 2001 May; 73(1):71-6. Westphal V, Enns GM, McCracken MF, Freeze HH. PMID: 11350185.
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    207. Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. Mol Genet Metab. 2001 May; 73(1):77-85. Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH. PMID: 11350186.
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    208. Two proteins modulating transendothelial migration of leukocytes recognize novel carboxylated glycans on endothelial cells. J Immunol. 2001 Apr 01; 166(7):4678-88. Srikrishna G, Panneerselvam K, Westphal V, Abraham V, Varki A, Freeze HH. PMID: 11254728.
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    209. Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study. Biol Chem. 2001 Feb; 382(2):161-77. Marquardt T, Freeze H. PMID: 11308015.
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    210. A novel anionic modification of N-glycans on mammalian endothelial cells is recognized by activated neutrophils and modulates acute inflammatory responses. J Immunol. 2001 Jan 01; 166(1):624-32. Srikrishna G, Toomre DK, Manzi A, Panneerselvam K, Freeze HH, Varki A, Varki NM. PMID: 11123346.
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    211. Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. Am J Pathol. 2000 Dec; 157(6):1917-25. Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH. PMID: 11106564; PMCID: PMC1885788.
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    212. Lysosomal protease pathways to apoptosis. Cleavage of bid, not pro-caspases, is the most likely route. J Biol Chem. 2001 Feb 02; 276(5):3149-57. Stoka V, Turk B, Schendel SL, Kim TH, Cirman T, Snipas SJ, Ellerby LM, Bredesen D, Freeze H, Abrahamson M, Bromme D, Krajewski S, Reed JC, Yin XM, Turk V, Salvesen GS. PMID: 11073962.
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    213. Congenital disorders of glycosylation: have you encountered them? Genet Med. 2000 Nov-Dec; 2(6):329-37. Westphal V, Srikrishna G, Freeze HH. PMID: 11339653.
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    214. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat. 2000 Nov; 16(5):386-94. Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B. PMID: 11058895.
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    215. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). Hum Mutat. 2000 Sep; 16(3):247-52. Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G. PMID: 10980531.
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    216. Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG). Glycobiology. 2000 Aug; 10(8):829-35. Rush JS, Panneerselvam K, Waechter CJ, Freeze HH. PMID: 10929009.
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    217. Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. Mol Genet Metab. 2000 Jul; 70(3):219-23. Westphal V, Schottstädt C, Marquardt T, Freeze HH. PMID: 10924277.
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    218. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) J Clin Invest. 2000 Jan; 105(2):191-8. Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH. PMID: 10642597; PMCID: PMC377427.
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    219. Correction of leukocyte adhesion deficiency type II with oral fucose. Blood. 1999 Dec 15; 94(12):3976-85. Marquardt T, Lühn K, Srikrishna G, Freeze HH, Harms E, Vestweber D. PMID: 10590041.
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    220. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr. 1999 Dec; 135(6):775-81. Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O'Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV. PMID: 10586187.
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    221. Characterization of Dictyostelium discoideum cathepsin D. J Cell Sci. 1999 Nov; 112 ( Pt 21):3833-43. Journet A, Chapel A, Jehan S, Adessi C, Freeze H, Klein G, Garin J. PMID: 10523518.
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    222. Aglycone structure influences alpha-fucosyltransferase III activity using N-acetyllactosamine glycoside acceptors. Glycoconj J. 1999 Nov; 16(11):725-30. Miura Y, Kim S, Etchison JR, Ding Y, Hindsgaul O, Freeze HH. PMID: 11003557.
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    223. Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity. Biochim Biophys Acta. 1999 Oct 08; 1455(2-3):167-78. Freeze HH, Aebi M. PMID: 10571010.
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    224. Characterization of mammalian UDP-GalNAc:glucuronide alpha 1-4-N-acetylgalactosaminyltransferase. Glycobiology. 1999 Oct; 9(10):1053-60. Miura Y, Ding Y, Manzi A, Hindsgaul O, Freeze HH. PMID: 10521542.
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    225. New diagnosis and treatment of congenital hepatic fibrosis. J Pediatr Gastroenterol Nutr. 1999 Jul; 29(1):104-6. Freeze HH. PMID: 10400117.
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    227. Human glycosylation disorders and sugar supplement therapy. Biochem Biophys Res Commun. 1999 Feb 16; 255(2):189-93. Freeze HH. PMID: 10049684.
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