Michael Kaback

Title(s)Emeritus Professor, Pediatrics
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    1. Michael Kaback: people and places. Genet Med. 2014 Dec; 16(12):981-3. Kaback MM. PMID: 24784159.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    2. In memoriam: David L. Rimoin (1936-2012). J Child Neurol. 2012 Oct; 27(10):1353-4. Danielpour M, Kaback MM. PMID: 23007303.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. David L. Rimoin. Am J Hum Genet. 2012 Sep 07; 91(3):403-7. Cohn DH, Shapiro LJ, Kaback MM. PMID: 23240132; PMCID: PMC3511997.
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    4. Genetic screening in the Persian Jewish community: A pilot study. Genet Med. 2010 Oct; 12(10):628-33. Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL. PMID: 20733503.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    5. 2006 ASHG Leadership Award. Introductory speech for David L. Rimoin. Am J Hum Genet. 2007 Oct; 81(4):668-9. Kaback M. PMID: 20529618; PMCID: PMC2227917.
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    6. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. Mol Genet Metab. 2006 Feb; 87(2):122-7. Vallance H, Morris TJ, Coulter-Mackie M, Lim-Steele J, Kaback M. PMID: 16352452.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    7. Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. Am J Med Genet A. 2004 Jun 01; 127A(2):158-66. Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD, Triggs-Raine BL. PMID: 15108204.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    8. The "Asilomar process" and the Human Genome Project. Perspect Biol Med. 2001; 44(2):230-4. Kaback MM. PMID: 11370157.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. American Pediatric Society presidential address 1999: The Joy of Academic Pediatrics. Pediatr Res. 2000 Apr; 47(4 Pt 1):433-6. Kaback MM. PMID: 10759147.
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    10. The APCI1307K allele and breast cancer risk. Nat Genet. 1998 Sep; 20(1):13-4. Redston M, Nathanson KL, Yuan ZQ, Neuhausen SL, Satagopan J, Wong N, Yang D, Nafa D, Abrahamson J, Ozcelik H, Antin-Ozerkis D, Andrulis I, Daly M, Pinsky L, Schrag D, Gallinger S, Kaback M, King MC, Woodage T, Brody LC, Godwin A, Warner E, Weber B, Foulkes W, Offit K. PMID: 9731522.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    11. Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. Am J Hum Genet. 1997 May; 60(5):1099-106. Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, Gravel RA. PMID: 9150157; PMCID: PMC1712448.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    12. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet. 1996 Oct; 14(2):188-90. Oddoux C, Struewing JP, Clayton CM, Neuhausen S, Brody LC, Kaback M, Haas B, Norton L, Borgen P, Jhanwar S, Goldgar D, Ostrer H, Offit K. PMID: 8841192.
      View in: PubMed   Mentions: 92     Fields:    Translation:Humans
    13. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet. 1995 Oct; 11(2):198-200. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, Brody LC. PMID: 7550349.
      View in: PubMed   Mentions: 146     Fields:    Translation:Humans
    14. A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test. Hum Mutat. 1995; 5(2):173-4. Brown DH, Triggs-Raine BL, McGinniss MJ, Kaback MM. PMID: 7749415.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    15. The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. Hum Mutat. 1994; 3(4):339-41. Whitney MA, Jakobs P, Kaback M, Moses RE, Grompe M. PMID: 8081385.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    16. Perspectives in genetic screening. Principles and implications. Int J Technol Assess Health Care. 1994; 10(4):592-603. Kaback MM. PMID: 7843881.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    17. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. Am J Hum Genet. 1993 Dec; 53(6):1198-205. Cao Z, Natowicz MR, Kaback MM, Lim-Steele JS, Prence EM, Brown D, Chabot T, Triggs-Raine BL. PMID: 7902672; PMCID: PMC1682498.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    18. Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA. 1993 Nov 17; 270(19):2307-15. Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. PMID: 8230592.
      View in: PubMed   Mentions: 61     Fields:    Translation:Humans
    19. Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. J Med Genet. 1993 Jun; 30(6):479-81. Landels EC, Green PM, Ellis IH, Fensom AH, Kaback MM, Lim-Steele J, Zeiger K, Levy N, Bobrow M. PMID: 8326491; PMCID: PMC1016420.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    20. A Pst+ polymorphism in the HEXA gene with an unusual geographic distribution. Eur J Hum Genet. 1993; 1(4):301-5. Kaplan F, Kapoor S, Lee D, Fernandes M, Vienozinskis M, Mascisch A, Scriver CR, Lim-Steele J, Kaback M, Zeiger K, Zoossman-Diskin A, Bonne-Tamir B, Landels E, Bobrow M, Hechtman P. PMID: 8081943.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    21. Screening tests: problems with DNA-based insurance testing. J Insur Med. 1993; Suppl B:237-46. Kaback M. PMID: 10146359.
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    22. A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. Hum Mol Genet. 1992 Dec; 1(9):759-61. Fernandes M, Kaplan F, Natowicz M, Prence E, Kolodny E, Kaback M, Hechtman P. PMID: 1302612.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    23. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am J Hum Genet. 1992 Oct; 51(4):793-801. Triggs-Raine BL, Mules EH, Kaback MM, Lim-Steele JS, Dowling CE, Akerman BR, Natowicz MR, Grebner EE, Navon R, Welch JP, et al. PMID: 1384323; PMCID: PMC1682803.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    24. Ganglioside GM2 levels in human melanoma cells: inverse correlation with lysosomal beta-hexosaminidase A activity. Biochem Int. 1992 Jul; 27(2):343-52. Hoon DS, Kaback MM, Lim-Steele J, Tsuchida T, Morton DL, Irie RF. PMID: 1386984.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    25. General population screening for cystic fibrosis is premature. Am J Hum Genet. 1992 Feb; 50(2):438-9. Biesecker L, Bowles-Biesecker B, Collins F, Kaback M, Wilfond B. PMID: 1734723; PMCID: PMC1682452.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansPHPublic Health
    26. A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. Hum Mutat. 1992; 1(4):303-9. Akerman BR, Zielenski J, Triggs-Raine BL, Prence EM, Natowicz MR, Lim-Steele JS, Kaback MM, Mules EH, Thomas GH, Clarke JT, et al. PMID: 1301938.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    27. Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am J Hum Genet. 1990 Oct; 47(4):698-705. Paw BH, Tieu PT, Kaback MM, Lim J, Neufeld EF. PMID: 2220809; PMCID: PMC1683802.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    28. Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. J Biol Chem. 1990 Jun 05; 265(16):9452-7. Paw BH, Moskowitz SM, Uhrhammer N, Wright N, Kaback MM, Neufeld EF. PMID: 2140574.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    29. The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet. 1990 Feb; 46(2):393. Caskey CT, Kaback MM, Beaudet AL. PMID: 2301404; PMCID: PMC1684976.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansPHPublic Health
    30. Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. Proc Natl Acad Sci U S A. 1989 Apr; 86(7):2413-7. Paw BH, Kaback MM, Neufeld EF. PMID: 2522660; PMCID: PMC286923.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    31. Maternal serum hexosaminidase A in pregnancy: effects of gestational age and fetal genotype. Am J Med Genet. 1988 Apr; 29(4):891-9. Ben-Yoseph Y, Pack BA, Thomas PM, Nadler HL, Kaback MM. PMID: 2969680.
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    32. Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients. Am J Hum Genet. 1987 Oct; 41(4):532-48. Bayleran J, Hechtman P, Kolodny E, Kaback M. PMID: 2959149; PMCID: PMC1684329.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    33. Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations. Am J Hum Genet. 1987 Jul; 41(1):16-26. Cantor RM, Roy C, Lim JS, Kaback MM. PMID: 2955697; PMCID: PMC1684163.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    34. Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods. Am J Hum Genet. 1985 Sep; 37(5):912-21. Cantor RM, Lim JS, Roy C, Kaback MM. PMID: 4050790; PMCID: PMC1684685.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    35. Marker chromosomes: cytogenetic characterization and implications for prenatal diagnosis. Am J Med Genet. 1985 Feb; 20(2):361-8. Mohandas T, Canning N, Chu W, Passage MB, Anderson CE, Kaback MM. PMID: 2579555.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    36. Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. J Biol Chem. 1984 Sep 10; 259(17):11070-4. d'Azzo A, Proia RL, Kolodny EH, Kaback MM, Neufeld EF. PMID: 6236221.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    37. The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin. Am J Hum Genet. 1983 Nov; 35(6):1258-69. Petersen GM, Rotter JI, Cantor RM, Field LL, Greenwald S, Lim JS, Roy C, Schoenfeld V, Lowden JA, Kaback MM. PMID: 6650504; PMCID: PMC1685967.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    38. Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate. Clin Chim Acta. 1983 Oct 14; 133(3):253-61. Fuchs W, Navon R, Kaback MM, Kresse H. PMID: 6226458.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    39. Minor chromosomal variants and major chromosomal anomalies in couples with recurrent abortion. Am J Hum Genet. 1982 Nov; 34(6):948-60. Blumberg BD, Shulkin JD, Rotter JI, Mohandas T, Kaback MM. PMID: 7180849; PMCID: PMC1685697.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    40. Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population. Am J Hum Genet. 1982 May; 34(3):444-51. Greenberg DA, Kaback MM. PMID: 6211091; PMCID: PMC1685349.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    41. Screening for reproductive counseling: social, ethical, and medicolegal issues in the Tay-Sachs disease experience. Prog Clin Biol Res. 1982; 103 Pt B:447-59. Kaback MM. PMID: 7163239.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansPHPublic Health
    42. The control of genetic disease by carrier screening and antenatal diagnosis: social, ethical, and medicolegal issues. Birth Defects Orig Artic Ser. 1982; 18(7):243-54. Kaback MM. PMID: 7159734.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    43. Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. Am J Hum Genet. 1981 Nov; 33(6):900-6. Stevens RL, Fluharty AL, Kihara H, Kaback MM, Shapiro LJ, Marsh B, Sandhoff K, Fischer G. PMID: 6119902; PMCID: PMC1685162.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
    44. Prenatal diagnosis of hereditary disease and congenital defects. Pediatr Ann. 1981 Feb; 10(2):22-37. Kaback MM. PMID: 7220122.
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    45. Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker). J Neurol Sci. 1980 Jun; 46(3):267-79. Zatz M, Shapiro LJ, Campion DS, Kaback MM, Otto PA. PMID: 7381516.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    46. Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res. 1979 Oct; 13(10):1179-81. Shapiro LJ, Aleck KA, Kaback MM, Itabashi H, Desnick RJ, Brand N, Stevens RL, Fluharty AL, Kihara H. PMID: 41211.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    47. Inherited lipid storage diseases of the central nervous system. Curr Probl Pediatr. 1979 Sep; 9(11):1-51. Percy AK, Shapiro LJ, Kaback MM. PMID: 117977.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    48. Medical genetics: an overview. Pediatr Clin North Am. 1978 Aug; 25(3):395-409. Kaback MM. PMID: 693078.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    49. Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in progressive muscular dystrophies. J Neurol Sci. 1978 May; 36(3):349-62. Zatz M, Shapiro LJ, Campion DS, Oda E, Kaback MM. PMID: 681967.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    50. Population screening for genetic disorders in California. UCLA Forum Med Sci. 1978; 20:207-19. Kaback MM. PMID: 80863.
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    51. Health behavior and genetic screening for carriers of Tay-Sachs disease: a prospective study. Soc Sci Med (1967). 1977 May; 11(8-9):515-20. Goldstein MS, Greenwald S, Nathan T, Massarik F, Kaback MM. PMID: 929244.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansPHPublic Health
    52. Tay-Sachs disease heterozygote detection: a quality control study. Prog Clin Biol Res. 1977; 18:267-79. Kaback MM, Shapiro LJ, Hirsch P, Roy C. PMID: 601080.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    53. Community-based genetic education, communication channels, and knowledge of Tay-Sachs disease. Prog Clin Biol Res. 1977; 18:353-66. Massarik F, Kaback MM, Greenwald S, Nathan TJ, Rosenthal M, Bass DM. PMID: 601086.
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    54. Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective. Prog Clin Biol Res. 1977; 18:13-36. Kaback MM, Nathan TJ, Greenwald S. PMID: 601074.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    55. Unique considerations for genetic counseling in community-based carrier screening programs. Prog Clin Biol Res. 1977; 18:297-304. Rimoin DL, Greenwald S, Nathan TJ, Kaback MM. PMID: 601081.
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    56. Prenatal diagnosis of the Meckel syndrome: use of serial ultrasound and alpha-fetoprotein measurements. Birth Defects Orig Artic Ser. 1977; 13(3D):267-72. Shapiro LJ, Kaback MM, Toomey KE, Sarti D, Luther P, Cousins L. PMID: 72573.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    57. Tay-Sachs screening: social and psychological impact. Am J Hum Genet. 1976 Nov; 28(6):550-8. Childs B, Gordis L, Kaback MM, Kazazian HH. PMID: 1032905; PMCID: PMC1685180.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansPHPublic Health
    58. Tay-Sachs screening: motives for participating and knowledge of genetics and probability. Am J Hum Genet. 1976 Nov; 28(6):537-49. Childs B, Gordis L, Kaback MM, Kazazian HH. PMID: 1008060; PMCID: PMC1685190.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansPHPublic Health
    59. Allelic mutations in the mucopolysaccharidoses. Birth Defects Orig Artic Ser. 1976; 12(6):81-91. Leisti J, Rimoin DL, Kaback M, Shapiro LJ, Matalon R. PMID: 823986.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    60. Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am J Hum Genet. 1975 Jul; 27(4):441-53. Leisti JT, Kaback MM, Rimoin DL. PMID: 1155455; PMCID: PMC1762798.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    61. Tay-Sachs disease: high gene frequency in a non-Jewish population. Am J Hum Genet. 1975 May; 27(3):287-91. Kelly TE, Chase GA, Kaback MM, Kumor K, McKusick VA. PMID: 803011; PMCID: PMC1762873.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    62. Approaches to the control and prevention of Tay-Sachs disease. Prog Med Genet. 1974; 10:103-34. Kaback MM, Zeiger RS, Reynolds LW, Sonneborn M. PMID: 4620174.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansPHPublic Health
    63. Sociologic studies in human genetics. I. Compliance factors in a voluntary heterozygote screening program. Birth Defects Orig Artic Ser. 1974; 10(6):145-63. Kaback MM, Becker MH, Ruth MV. PMID: 4469209.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansPHPublic Health
    64. Automated assay of hexosaminidases in serum. Clin Chem. 1973 Dec; 19(12):1345-9. Lowden JA, Skomorowski MA, Henderson F, Kaback M. PMID: 4757362.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCellsPHPublic Health
    65. Editorial: Heterozygote screening--a social challenge. N Engl J Med. 1973 Nov 15; 289(20):1090-1. Kaback MM. PMID: 4742226.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansPHPublic Health
    66. Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts. Am J Hum Genet. 1973 Nov; 25(6):604-9. Farrell DF, Percy AK, Kaback MM, McKhann GM. PMID: 4773478; PMCID: PMC1762568.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    67. Confirmatory studies in the prenatal diagnosis of sphingolipidoses. Pediatr Res. 1973 Oct; 7(10):812-7. Percy AK, Miller K, Sonneborn M, Kaback MM. PMID: 4201091.
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    68. Gm-gangliosidosis type I: in utero detection and fetal manifestations. J Pediatr. 1973 Jun; 82(6):1037-41. Kaback MM, Sloan HR, Sonneborn M, Herndon RM, Percy AK. PMID: 4702895.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    69. Intrauterine diagnosis: comparative enzymology of cells cultivated from maternal skin, fetal skin, and amniotic fluid cells. Pediatr Res. 1971 Aug; 5(8):366-71. Kaback MM, Leonard CO, Parmley TH. PMID: 5146085.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    70. Intrauterine diagnosis of fetal disorders. Paediatr Univ Tokyo. 1970 Dec; 18:79-87. Kaback MM, Cooke RE. PMID: 5535256.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
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