Annette Feigenbaum

Title(s)Associate Physician, Pediatrics
SchoolVc-health Sciences-schools
ORCID ORCID Icon0000-0002-7918-1670 Additional info
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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. Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency. Cold Spring Harb Mol Case Stud. 2021 06; 7(3). Owen MJ, Lenberg J, Feigenbaum A, Gold J, Chau K, Bezares-Orin Z, Ding Y, Chowdhury S, Kingsmore SF. PMID: 34117075.
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    2. Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy. Am J Med Genet A. 2021 06; 185(6):1848-1853. Tise CG, Morales JA, Lee AS, Velez-Bartolomei F, Floyd BJ, Levy RJ, Cusmano-Ozog KP, Feigenbaum AS, Ruzhnikov MRZ, Lee CU, Enns GM. PMID: 33683010.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    3. Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia. Mol Genet Metab Rep. 2021 Jun; 27:100735. Huang Y, Sharma R, Feigenbaum A, Lee C, Sahai I, Sanchez Russo R, Neira J, Brooks SS, Jackson KE, Wong D, Cederbaum S, Lacbawan FL, Rowland CM, Tanpaiboon P, Salazar D. PMID: 33732618.
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    4. Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Mol Genet Metab. 2021 02; 132(2):119-127. Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N. PMID: 33485801.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet. 2020 11 05; 107(5):942-952. Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF, RCIGM Investigators . PMID: 33157007.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    6. Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):135-146. Conte F, Morava E, Bakar NA, Wortmann SB, Poerink AJ, Grunewald S, Crushell E, Al-Gazali L, de Vries MC, Mørkrid L, Hertecant J, Brocke Holmefjord KS, Kronn D, Feigenbaum A, Fingerhut R, Wong SY, van Scherpenzeel M, Voermans NC, Lefeber DJ. PMID: 33342467.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    7. Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network. Orphanet J Rare Dis. 2020 04 10; 15(1):89. Tingley K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mohan C, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Napier M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Vandersteen A, Walia J, Wilson A, Wilson BJ, Yu AC, Yuskiv N, Chakraborty P, Canadian Inherited Metabolic Diseases Research Network . PMID: 32276663.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. Cold Spring Harb Mol Case Stud. 2020 02; 6(1). Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D. PMID: 32014857.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    9. Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. JIMD Rep. 2020 Mar; 52(1):3-10. Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A. PMID: 32154053.
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    10. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. Can J Neurol Sci. 2019 11; 46(6):717-726. Paik K, Lines MA, Chakraborty P, Khangura SD, Latocki M, Al-Hertani W, Brunel-Guitton C, Khan A, Penny B, Rockman-Greenberg C, Rupar CA, Sondheimer N, Tarnopolsky M, Tingley K, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Gillis J, van Karnebeek CDM, Kronick JB, Little J, Potter M, Siriwardena K, Sparkes R, Turner LA, Wilson K, Buhas D, Potter BK, Canadian Inherited Metabolic Diseases Research Network . PMID: 31387656.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    11. Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework. Mol Genet Metab. 2019 Sep - Oct; 128(1-2):122-128. McGlaughon JL, Pasquali M, Wallace K, Ross J, Senol-Cosar O, Shen W, Weaver MA, Feigenbaum A, Lyon E, Enns GM, Mao R, Baudet HG. PMID: 31399326.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCellsPHPublic Health
    12. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Mol Genet Metab. 2019 08; 127(4):336-345. Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA. PMID: 31326288.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada. Orphanet J Rare Dis. 2019 03 22; 14(1):70. Karaceper MD, Khangura SD, Wilson K, Coyle D, Brownell M, Davies C, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Hawken S, Hayeems RZ, Kronick JB, Laberge AM, Little J, Mhanni A, Mitchell JJ, Nakhla M, Potter M, Prasad C, Rockman-Greenberg C, Sparkes R, Stockler S, Ueda K, Vallance H, Wilson BJ, Chakraborty P, Potter BK, Canadian Inherited Metabolic Diseases Research Network (CIMDRN) . PMID: 30902101.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    14. Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events. J Inherit Metab Dis. 2019 03; 42(2):243-253. Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P, Urea Cycle Disorders Consortium . PMID: 30671983.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    15. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat. 2018 11; 39(11):1569-1580. Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R, ClinGen Inborn Errors of Metabolism Working Group . PMID: 30311390.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    16. An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genet Med. 2019 04; 21(4):887-895. Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. PMID: 30214072.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    17. Natural History of Vanishing White Matter. Ann Neurol. 2018 08; 84(2):274-288. Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI, VWM Research Group , van der Knaap MS. PMID: 30014503.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    18. Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis. 2018 07; 41(4):657-667. Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S, Members of the Urea Cycle Disorders Consortium . PMID: 29423830.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    19. Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. J Radiol Case Rep. 2018 Jan; 12(1):1-8. Li CQ, Barshop BA, Feigenbaum A, Khanna PC. PMID: 29875981.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    20. Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology. 2017 11 28; 89(22):2297-2298. Friedman J, Feigenbaum A, Chuang N, Silhavy J, Gleeson JG. PMID: 29093066.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    21. Response to Newman et al. Genet Med. 2017 12; 19(12). Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF. PMID: 29215644.
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    22. Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. JIMD Rep. 2018; 39:89-96. Waters PJ, Kitzler TM, Feigenbaum A, Geraghty MT, Al-Dirbashi O, Bherer P, Auray-Blais C, Gravel S, McIntosh N, Siriwardena K, Trakadis Y, Brunel-Guitton C, Al-Hertani W. PMID: 28766179.
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    23. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12). Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. PMID: 28749475.
      View in: PubMed   Mentions: 45     Fields:    Translation:Humans
    24. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016 07; 118(3):178-184. Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. PMID: 27312126.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    25. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. Orphanet J Rare Dis. 2016 Feb 03; 11:12. Karaceper MD, Chakraborty P, Coyle D, Wilson K, Kronick JB, Hawken S, Davies C, Brownell M, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Laberge AM, Mhanni A, Miller FA, Mitchell JJ, Nakhla M, Prasad C, Rockman-Greenberg C, Sparkes R, Wilson BJ, Potter BK, Canadian Inherited Metabolic Diseases Research Network . PMID: 26841949.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansPHPublic Health
    26. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34. Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. PMID: 26296711.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCTClinical Trials
    27. Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. Eur J Paediatr Neurol. 2015 Sep; 19(5):525-32. Cameron JM, MacKay N, Feigenbaum A, Tarnopolsky M, Blaser S, Robinson BH, Schulze A. PMID: 26008862.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    28. Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada. JIMD Rep. 2015; 21:15-22. Lamoureux MF, Tingley K, Kronick JB, Potter BK, Chan AK, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty M, Gillis J, Rockman-Greenberg C, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell JJ, Mitchell G, Laberge AM, Potter M, Prasad C, Siriwardena K, Speechley KN, Stockler S, Trakadis Y, Turner L, Van Karnebeek C, Wilson K, Chakraborty P, Canadian Inherited Metabolic Diseases Research Network . PMID: 25716610.
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    29. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 05; 96(2):275-82. Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nürnberg P, Höhne W, Crow YJ, Feigenbaum A, Hennekam RC. PMID: 25620204.
      View in: PubMed   Mentions: 67     Fields:    Translation:HumansCells
    30. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul; 17(7):561-8. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley J, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, UCD Consortium , Scharschmidt BF. PMID: 25503497.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    31. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. Mol Genet Metab. 2014 Nov; 113(3):171-6. Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S. PMID: 25266922.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    32. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. Genet Med. 2015 May; 17(5):365-73. Longo N, Siriwardena K, Feigenbaum A, Dimmock D, Burton BK, Stockler S, Waisbren S, Lang W, Jurecki E, Zhang C, Prasad S. PMID: 25232857.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    33. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013 May; 136(Pt 5):1534-43. Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS. PMID: 23482991.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    34. Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. . 2013 Feb; 161A(2):360-70. Feigenbaum A, Müller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC. PMID: 23322711.
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    35. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun; 57(6):2171-9. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. PMID: 22961727.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCTClinical Trials
    36. Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework. Genet Med. 2013 Jun; 15(6):415-22. Potter BK, Chakraborty P, Kronick JB, Wilson K, Coyle D, Feigenbaum A, Geraghty MT, Karaceper MD, Little J, Mhanni A, Mitchell JJ, Siriwardena K, Wilson BJ, Syrowatka A, Canadian Inherited Metabolic Diseases Research Network . PMID: 23222662.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    37. Design and implementation of the first randomized controlled trial of coenzyme CoQ10 in children with primary mitochondrial diseases. Mitochondrion. 2012 Nov; 12(6):623-9. Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, Miles MV, Robinson BH, Tang PH. PMID: 23022402.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    38. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab. 2011 Sep-Oct; 104(1-2):107-11. Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. PMID: 21802329.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    39. MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation. Biochem Biophys Res Commun. 2010 Nov 12; 402(2):443-7. Connolly BS, Feigenbaum AS, Robinson BH, Dipchand AI, Simon DK, Tarnopolsky MA. PMID: 20965148.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    40. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 Oct 15; 330(6002):336. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. PMID: 20847235.
      View in: PubMed   Mentions: 78     Fields:    Translation:Humans
    41. A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. Am J Med Genet A. 2010 May; 152A(5):1268-72. Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. PMID: 20425834.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    42. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-105. Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. PMID: 20188616.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    43. Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Hum Genet. 2009 Aug; 126(2):342. Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. PMID: 19694026.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    44. Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Hum Genet. 2009 Aug; 126(2):341. Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. PMID: 19694025.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    45. Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations. Pediatr Neurol. 2009 Jul; 41(1):27-33. Werner KG, Morel CF, Kirton A, Benseler SM, Shoffner JM, Addis JB, Robinson BH, Burrowes DM, Blaser SI, Epstein LG, Feigenbaum AS. PMID: 19520270.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    46. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2009 Mar; 96(3):85-90. Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A. PMID: 19157942.
      View in: PubMed   Mentions: 60     Fields:    Translation:Humans
    47. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. . 2008 Nov 15; 146A(22):2885-90. Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. PMID: 18925679.
      View in: PubMed   Mentions:
    48. Stepwise developmental regression associated with novel CACNA1A mutation. Pediatr Neurol. 2008 Nov; 39(5):363-4. Guerin AA, Feigenbaum A, Donner EJ, Yoon G. PMID: 18940563.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    49. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. J AAPOS. 2008 Dec; 12(6):591-6. Gerth C, Morel CF, Feigenbaum A, Levin AV. PMID: 18848477.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    50. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl. 2008 Oct; 14(10):1480-5. Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong LJ, Scaglia F. PMID: 18825706.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    51. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet. 2007 Aug 11; 370(9586):504-10. Levy HL, Milanowski A, Chakrapani A, Cleary M, Lee P, Trefz FK, Whitley CB, Feillet F, Feigenbaum AS, Bebchuk JD, Christ-Schmidt H, Dorenbaum A, Sapropterin Research Group . PMID: 17693179.
      View in: PubMed   Mentions: 77     Fields:    Translation:HumansCTClinical Trials
    52. Late-onset cobalamin-C disorder: a challenging diagnosis. . 2007 May 01; 143A(9):979-84. Ben-Omran TI, Wong H, Blaser S, Feigenbaum A. PMID: 17431913.
      View in: PubMed   Mentions:
    53. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006 Dec; 116(12):2113-9. Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P, Papsin BC. PMID: 17146381.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    54. A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation. CMAJ. 2006 Nov 21; 175(11):1369. Mahant S, Feigenbaum A. PMID: 17116901.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    55. Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness. . 2006 Oct 15; 140(20):2216-22. Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ. PMID: 16955414.
      View in: PubMed   Mentions:
    56. Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med. 2006 Oct; 8(10):641-52. Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. PMID: 17079881.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    57. Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. . 2006 Jul 15; 140(14):1542-52. Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. PMID: 16770810.
      View in: PubMed   Mentions:
    58. The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. Ophthalmic Genet. 2006 Mar; 27(1):1-7. Miller GL, Somani S, Nowaczyk MJ, Feigenbaum A, Davidson RG, Costa T, Levin AV. PMID: 16543195.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    59. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. . 2005 Jun 15; 135(3):289-91. Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA. PMID: 15887277.
      View in: PubMed   Mentions:
    60. A neuroimaging approach to inborn errors of metabolism. Neuroimaging Clin N Am. 2004 May; 14(2):307-29, ix. Blaser S, Feigenbaum A. PMID: 15182821.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    61. A six-month-old infant with liver steatosis. J Pediatr. 2004 Feb; 144(2):258-63. Stormon MO, Cutz E, Furuya K, Bedford M, Yerkes L, Tolan DR, Feigenbaum A. PMID: 14760272.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    62. Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. . 2004 Jan 15; 124A(2):142-7. Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL. PMID: 14699612.
      View in: PubMed   Mentions:
    63. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol. 2003 Feb; 53(2):252-8. van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. PMID: 12557294.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansCells
    64. Answers to missing mtDNA found at last. Pediatr Res. 2002 Sep; 52(3):319-20. Feigenbaum A. PMID: 12193660.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    65. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol. 2002 Sep; 52(3):311-7. Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. PMID: 12205643.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
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