Skip to main content
NCBI home page
Canadian Medical Association Journal logoLink to Canadian Medical Association Journal
. 1972 Mar 18;106(6):677–passim.

Inborn errors of metabolism: principles and their applications.

L Pinksy
PMCID: PMC1940485  PMID: 4551928

Full text

PDF
677

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Ando T., Rasmussen K., Nyhan W. L., Donnell G. N., Barnes N. D. Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr. 1971 May;78(5):827–832. doi: 10.1016/s0022-3476(71)80354-2. [DOI] [PubMed] [Google Scholar]
  2. BRZEZINSKI A., SADOVSKY E., SHAFRIR E. PROTEIN COMPOSITION OF EARLY AMNIOTIC FLUID AND FETAL SERUM WITH A CASE OF BIS-ALBUMINEMIA. Am J Obstet Gynecol. 1964 Jun 15;89:488–494. doi: 10.1016/0002-9378(64)90553-8. [DOI] [PubMed] [Google Scholar]
  3. Bejsovec M., Kulenda Z., Ponca E. Familial intrauterine convulsions in pyridoxine dependency. Arch Dis Child. 1967 Apr;42(222):201–207. doi: 10.1136/adc.42.222.201. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Beutler E., Kuhl W., Trinidad F., Teplitz R., Nadler H. Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease. Am J Hum Genet. 1971 Jan;23(1):62–66. [PMC free article] [PubMed] [Google Scholar]
  5. Bottini E., Lucarelli P., Agostino R., Palmarino R., Businco L., Antognoni G. Favism: association with erythrocyte acid phosphatase phenotype. Science. 1971 Jan 29;171(3969):409–411. doi: 10.1126/science.171.3969.409. [DOI] [PubMed] [Google Scholar]
  6. Brady R. O., Gal A. E., Bradley R. M., Martensson E., Warshaw A. L., Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967 May 25;276(21):1163–1167. doi: 10.1056/NEJM196705252762101. [DOI] [PubMed] [Google Scholar]
  7. Brady R. O., Uhlendorf B. W., Jacobson C. B. Fabry's disease: antenatal detection. Science. 1971 Apr 9;172(3979):174–175. doi: 10.1126/science.172.3979.174. [DOI] [PubMed] [Google Scholar]
  8. Carpenter G. G., Auerbach V. H., DiGeorge A. M. Phenylalaninemia. Pediatr Clin North Am. 1968 May;15(2):313–323. doi: 10.1016/s0031-3955(16)32124-1. [DOI] [PubMed] [Google Scholar]
  9. Chacko C. M., Christian J. C., Nadler H. L. Unstable galactose-1-phosphate uridyl transferase: a new variant of galactosemia. J Pediatr. 1971 Mar;78(3):454–460. doi: 10.1016/s0022-3476(71)80226-3. [DOI] [PubMed] [Google Scholar]
  10. Chang T. M., Poznansky M. J. Semipermeable microcapsules containing catalase for enzyme replacement in acatalasaemic mice. Nature. 1968 Apr 20;218(5138):243–245. doi: 10.1038/218243a0. [DOI] [PubMed] [Google Scholar]
  11. Childs B., Der Kaloustian V. M. Genetic heterogeneity. N Engl J Med. 1968 Dec 5;279(23):1267–concl. doi: 10.1056/NEJM196812052792306. [DOI] [PubMed] [Google Scholar]
  12. Cleaver J. E. Defective repair replication of DNA in xeroderma pigmentosum. Nature. 1968 May 18;218(5142):652–656. doi: 10.1038/218652a0. [DOI] [PubMed] [Google Scholar]
  13. Cornblath M., Gingell R. L., Fleming G. A., Tildon J. T., Leffler A. T., Wapnir R. A. A new syndrome of ketoacidosis in infancy. J Pediatr. 1971 Sep;79(3):413–418. doi: 10.1016/s0022-3476(71)80149-x. [DOI] [PubMed] [Google Scholar]
  14. Crigler J. F., Jr, Gold N. I. Effect of sodium phenobarbital on bilirubin metabolism in an infant with congenital, nonhemolytic, unconjugated hyperbilirubinemia, and kernicterus. J Clin Invest. 1969 Jan;48(1):42–55. doi: 10.1172/JCI105973. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Dancis J., Hutzler J., Cox R. P., Woody N. C. Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency. J Clin Invest. 1969 Aug;48(8):1447–1452. doi: 10.1172/JCI106110. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Danes B. S., Bearn A. G. A genetic cell marker in cystic fibrosis of the pancreas. Lancet. 1968 May 18;1(7551):1061–1063. doi: 10.1016/s0140-6736(68)91412-8. [DOI] [PubMed] [Google Scholar]
  17. Danes B. S., Bearn A. G. Cellular metachromasia, a genetic marker for studying the mucopolysaccharidoses. Lancet. 1967 Feb 4;1(7484):241–243. doi: 10.1016/s0140-6736(67)91302-5. [DOI] [PubMed] [Google Scholar]
  18. Daum R. S., Lamm P. H., Mamer O. A., Scriver C. R. A "new" disorder of isoleucine catabolism. Lancet. 1971 Dec 11;2(7737):1289–1290. doi: 10.1016/s0140-6736(71)90605-2. [DOI] [PubMed] [Google Scholar]
  19. Dawson G., Matalon R., Stein A. O. Lactosylceramidosis: lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts. J Pediatr. 1971 Sep;79(3):423–429. doi: 10.1016/s0022-3476(71)80151-8. [DOI] [PubMed] [Google Scholar]
  20. Di Ferrante N., Nichols B. L., Donnelly P. V., Neri G., Hrgovcic R., Berglund R. K. Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion. Proc Natl Acad Sci U S A. 1971 Feb;68(2):303–307. doi: 10.1073/pnas.68.2.303. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Durand P., Borrone C., Della Cella G. Fucosidosis. J Pediatr. 1969 Oct;75(4):665–674. doi: 10.1016/s0022-3476(69)80464-6. [DOI] [PubMed] [Google Scholar]
  22. Epstein C. J., Brady R. O., Schneider E. L., Bradley R. M., Shapiro D. In utero diagnosis of Niemann-Pick disease. Am J Hum Genet. 1971 Sep;23(5):533–535. [PMC free article] [PubMed] [Google Scholar]
  23. FROESCH E. R., WOLF H. P., BAITSCH H., PRADER A., LABHART A. Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase. Am J Med. 1963 Feb;34:151–167. doi: 10.1016/0002-9343(63)90050-0. [DOI] [PubMed] [Google Scholar]
  24. Fox M. S., Littlefield J. W. Reservations concerning gene therapy. Science. 1971 Jul 16;173(3993):195–195. doi: 10.1126/science.173.3993.195. [DOI] [PubMed] [Google Scholar]
  25. Frankenburg W. K., Duncan B. R., Coffelt R. W., Koch R., Coldwell J. G., Son C. D. Maternal phenylketonuria: implications for growth and development. J Pediatr. 1968 Oct;73(4):560–570. doi: 10.1016/s0022-3476(68)80271-9. [DOI] [PubMed] [Google Scholar]
  26. Fratantoni J. C., Hall C. W., Neufeld E. F. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science. 1968 Nov 1;162(3853):570–572. doi: 10.1126/science.162.3853.570. [DOI] [PubMed] [Google Scholar]
  27. Gartler S. M., Scott R. C., Goldstein J. L., Campbell B. Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles. Science. 1971 May 7;172(3983):572–574. doi: 10.1126/science.172.3983.572. [DOI] [PubMed] [Google Scholar]
  28. Gregoriadis G., Leathwood P. D., Ryman B. E. Enzyme entrapment in liposomes. FEBS Lett. 1971 Apr;14(2):95–99. doi: 10.1016/0014-5793(71)80109-6. [DOI] [PubMed] [Google Scholar]
  29. Hirschhorn K., Nadler H. L., Waithe W. I., Brown B. I., Hirschhorn R. Pompe's disease: detection of heterozygotes by lymphocyte stimulation. Science. 1969 Dec 26;166(3913):1632–1633. doi: 10.1126/science.166.3913.1632. [DOI] [PubMed] [Google Scholar]
  30. Howell R. R., Kaback M. M., Brown B. I. Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. J Pediatr. 1971 Apr;78(4):638–642. doi: 10.1016/s0022-3476(71)80466-3. [DOI] [PubMed] [Google Scholar]
  31. Hsia D. Y. Clinical variants of galactosemia. Metabolism. 1967 May;16(5):419–437. doi: 10.1016/0026-0495(67)90133-3. [DOI] [PubMed] [Google Scholar]
  32. Hsia D. Y. The detection of heterozygous carriers. Med Clin North Am. 1969 Jul;53(4):857–874. [PubMed] [Google Scholar]
  33. Huijing F., Obbink H. J., Van Creveld S. The activity of the debranching-enzyme system in leucocytes. A genetic study of glycogen storage disease type 3. Acta Genet Stat Med. 1968;18(2):128–136. doi: 10.1159/000152128. [DOI] [PubMed] [Google Scholar]
  34. Kaback M. M., Howell R. R. Infantile metachromatic leukodystrophy. N Engl J Med. 1970 Jun 11;282(24):1336–1340. doi: 10.1056/NEJM197006112822403. [DOI] [PubMed] [Google Scholar]
  35. Kelley W. N., Rosenbloom F. M., Seegmiller J. E., Howell R. R. Excessive production of uric acid in type I glycogen storage disease. J Pediatr. 1968 Apr;72(4):488–496. doi: 10.1016/s0022-3476(68)80339-7. [DOI] [PubMed] [Google Scholar]
  36. Kelley W. N., Rosenbloom F. M., Seegmiller J. E. The effects of azathioprine (imuran) on purine synthesis in clinical disorders of purine metabolism. J Clin Invest. 1967 Sep;46(9):1518–1529. doi: 10.1172/JCI105643. [DOI] [PMC free article] [PubMed] [Google Scholar]
  37. Kjellman B., Gamstorp I., Brun A., Ockerman P. A., Palmgren B. Mannosidosis: a clinical and histopathologic study. J Pediatr. 1969 Sep;75(3):366–373. doi: 10.1016/s0022-3476(69)80260-x. [DOI] [PubMed] [Google Scholar]
  38. Knudson A. G., Jr, Di Ferrante N., Curtis J. E. Effect of leukocyte transfusion in a child with type II mucopolysaccharidosis. Proc Natl Acad Sci U S A. 1971 Aug;68(8):1738–1741. doi: 10.1073/pnas.68.8.1738. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. Laberge C., Dallaire L. Genetic aspects of tyrosinemia in the Chicoutimi region. Can Med Assoc J. 1967 Oct 28;97(18):1099–1101. [PMC free article] [PubMed] [Google Scholar]
  40. Lake B. D., Patrick A. D. Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes. J Pediatr. 1970 Feb;76(2):262–266. doi: 10.1016/s0022-3476(70)80172-x. [DOI] [PubMed] [Google Scholar]
  41. Lightbody J., Wiesmann U., Hadorn B., Herschkowitz N. I-cell disease: multiple lysosomal-enzyme defect. Lancet. 1971 Feb 27;1(7696):451–451. doi: 10.1016/s0140-6736(71)92435-4. [DOI] [PubMed] [Google Scholar]
  42. Mapes C. A., Anderson R. L., Sweeley C. C., Desnick R. J., Krivit W. Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science. 1970 Sep 4;169(3949):987–989. doi: 10.1126/science.169.3949.987. [DOI] [PubMed] [Google Scholar]
  43. Marrow G., 3rd, Schwarz R. H., Hallock J. A., Barness L. A. Prenatal detection of methylmalonic acidemia. J Pediatr. 1970 Jul;77(1):120–123. doi: 10.1016/s0022-3476(70)80054-3. [DOI] [PubMed] [Google Scholar]
  44. Matalon R., Dorfman A., Nadler H. L., Jacobson C. B. A chemical method for the antenatal diagnosis of mucopolysaccharidoses. Lancet. 1970 Jan 10;1(7637):83–84. doi: 10.1016/s0140-6736(70)91869-6. [DOI] [PubMed] [Google Scholar]
  45. Melancon S. B., Lee S. Y., Nadler H. L. Histidase activity in cultivated human amniotic fluid cells. Science. 1971 Aug 13;173(3997):627–628. doi: 10.1126/science.173.3997.627. [DOI] [PubMed] [Google Scholar]
  46. Migeon B. R., Der Kaloustian V. M., Nyhan W. L., Yough W. J., Childs B. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science. 1968 Apr 26;160(3826):425–427. doi: 10.1126/science.160.3826.425. [DOI] [PubMed] [Google Scholar]
  47. Mudd S. H. Pyridoxine-responsive genetic disease. Fed Proc. 1971 May-Jun;30(3):970–976. [PubMed] [Google Scholar]
  48. Nadler H. L., Chacko C. M., Rachmeler M. Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity. Proc Natl Acad Sci U S A. 1970 Oct;67(2):976–982. doi: 10.1073/pnas.67.2.976. [DOI] [PMC free article] [PubMed] [Google Scholar]
  49. Nadler H. L., Gerbie A. B. Enzymes in noncultured amniotic fluid cells. Am J Obstet Gynecol. 1969 Mar 1;103(5):710–712. doi: 10.1016/0002-9378(69)90567-5. [DOI] [PubMed] [Google Scholar]
  50. Nadler H. L. Indications for amniocentesis in the early prenatal detection of genetic disorders. Birth Defects Orig Artic Ser. 1971 Apr;7(5):5–9. [PubMed] [Google Scholar]
  51. Nadler H. L. Newer procedures in the preconceptional, prenatal and early postnatal diagnosis of birth defects. Birth Defects Orig Artic Ser. 1970 May;6(1):26–33. [PubMed] [Google Scholar]
  52. Neufeld E. F., Fratantoni J. C. Inborn errors of mucopolysaccharide metabolism. Science. 1970 Jul 10;169(3941):141–146. doi: 10.1126/science.169.3941.141. [DOI] [PubMed] [Google Scholar]
  53. O'Brien J. S., Okada S., Fillerup D. L., Veath M. L., Adornato B., Brenner P. H., Leroy J. G. Tay-Sachs disease: prenatal diagnosis. Science. 1971 Apr 2;172(3978):61–64. doi: 10.1126/science.172.3978.61. [DOI] [PubMed] [Google Scholar]
  54. O'Brien J. S., Okada S., Ho M. W., Fillerup D. L., Veath M. L., Adams K. Ganglioside storage diseases. Fed Proc. 1971 May-Jun;30(3):956–969. [PubMed] [Google Scholar]
  55. Pinsky L., Krooth R. S. Studies on the control of pyrimidine biosynthesis in human diploid cell strains, I. Effect of 6-azauridine on cellular phenotype. Proc Natl Acad Sci U S A. 1967 Apr;57(4):925–932. doi: 10.1073/pnas.57.4.925. [DOI] [PMC free article] [PubMed] [Google Scholar]
  56. Pinsky L., Powell E., Callahan J. GM1-gangliosidosis types 1 and 2: enzymatic differences in cultured fibroblasts. Nature. 1970 Dec 12;228(5276):1093–1095. doi: 10.1038/2281093b0. [DOI] [PubMed] [Google Scholar]
  57. Piomelli S., Corash L. M., Davenport D. D., Miraglia J., Amorosi E. L. In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency. J Clin Invest. 1968 Apr;47(4):940–948. doi: 10.1172/JCI105786. [DOI] [PMC free article] [PubMed] [Google Scholar]
  58. Porter M. T., Fluharty A. L., Kihara H. Correction of abnormal cerebroside sulfate metabolism in cultured metachromatic leukodystrophy fibroblasts. Science. 1971 Jun 18;172(3989):1263–1265. doi: 10.1126/science.172.3989.1263. [DOI] [PubMed] [Google Scholar]
  59. Roe T. F., Hallatt J. G., Donnell G. N., Ng W. G. Childbearing by a galactosemic woman. J Pediatr. 1971 Jun;78(6):1026–1030. doi: 10.1016/s0022-3476(71)80434-1. [DOI] [PubMed] [Google Scholar]
  60. Romeo G., Kaback M. M., Levin E. Y. Uroporphyrinogen 3 cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria. Biochem Genet. 1970 Dec;4(6):659–664. doi: 10.1007/BF00486379. [DOI] [PubMed] [Google Scholar]
  61. Rosenberg L. E., Lilljeqvist A., Hsia Y. E. Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency. Science. 1968 Nov 15;162(3855):805–807. doi: 10.1126/science.162.3855.805. [DOI] [PubMed] [Google Scholar]
  62. Ruddle F. H. Linkage studies employing mouse--man somatic cell hybrids. Fed Proc. 1971 May-Jun;30(3):921–925. [PubMed] [Google Scholar]
  63. Schulman J. D., Fujimoto W. Y., Bradley K. H., Seegmiller J. E. Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report. J Pediatr. 1970 Sep;77(3):468–470. doi: 10.1016/s0022-3476(70)80020-8. [DOI] [PubMed] [Google Scholar]
  64. Scriver C. R., Mackenzie S., Clow C. L., Delvin E. Thiamine-responsive maple-syrup-urine disease. Lancet. 1971 Feb 13;1(7694):310–312. doi: 10.1016/s0140-6736(71)91041-5. [DOI] [PubMed] [Google Scholar]
  65. Scriver C. R. Treatment of inherited disease: realized and potential. Med Clin North Am. 1969 Jul;53(4):941–963. [PubMed] [Google Scholar]
  66. Sternlieb I., Scheinberg I. H. Prevention of Wilson's disease in asymptomatic patients. N Engl J Med. 1968 Feb 15;278(7):352–359. doi: 10.1056/NEJM196802152780702. [DOI] [PubMed] [Google Scholar]
  67. Suzuki K., Suzuki Y. Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase. Proc Natl Acad Sci U S A. 1970 Jun;66(2):302–309. doi: 10.1073/pnas.66.2.302. [DOI] [PMC free article] [PubMed] [Google Scholar]
  68. Tedesco T. A., Mellman W. J. Galactosemia: evidence for a structural gene mutation. Science. 1971 May 14;172(3984):727–728. doi: 10.1126/science.172.3984.727. [DOI] [PubMed] [Google Scholar]
  69. WILLIAMS H. E., FIELD J. B. Further studies on leukocyte phosphorylase in glycogen storage disease. Metabolism. 1963 May;12:464–466. [PubMed] [Google Scholar]
  70. WILSON J. G. Experimental studies on congenital malformations. J Chronic Dis. 1959 Aug;10(2):111–130. doi: 10.1016/0021-9681(59)90026-8. [DOI] [PubMed] [Google Scholar]

Articles from Canadian Medical Association Journal are provided here courtesy of Canadian Medical Association

RESOURCES