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. 1989 Oct;64(10 Spec No):1410–1415. doi: 10.1136/adc.64.10_spec_no.1410

Diagnosis and management of inborn errors of metabolism.

J E Wraith 1
PMCID: PMC1590098  PMID: 2686556

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Selected References

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

  1. Batshaw M. L., Brusilow S., Waber L., Blom W., Brubakk A. M., Burton B. K., Cann H. M., Kerr D., Mamunes P., Matalon R. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med. 1982 Jun 10;306(23):1387–1392. doi: 10.1056/NEJM198206103062303. [DOI] [PubMed] [Google Scholar]
  2. Beutler E., Baluda M. C. A simple spot screening test for galactosemia. J Lab Clin Med. 1966 Jul;68(1):137–141. [PubMed] [Google Scholar]
  3. Brusilow S. W. Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis. J Clin Invest. 1984 Dec;74(6):2144–2148. doi: 10.1172/JCI111640. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Burton B. K. Inborn errors of metabolism: the clinical diagnosis in early infancy. Pediatrics. 1987 Mar;79(3):359–369. [PubMed] [Google Scholar]
  5. Chalmers R. A., Watts R. W., Lawson A. M. A comprehensive screening method for detecting organic acidurias and other metabolic diseases in acutely sick infants and children. Ann Clin Biochem. 1977 May;14(3):149–156. doi: 10.1177/000456327701400134. [DOI] [PubMed] [Google Scholar]
  6. Gabow P. A., Kaehny W. D., Fennessey P. V., Goodman S. I., Gross P. A., Schrier R. W. Diagnostic importance of an increased serum anion gap. N Engl J Med. 1980 Oct 9;303(15):854–858. doi: 10.1056/NEJM198010093031505. [DOI] [PubMed] [Google Scholar]
  7. Gillan J. E., Lowden J. A., Gaskin K., Cutz E. Congenital ascites as a presenting sign of lysosomal storage disease. J Pediatr. 1984 Feb;104(2):225–231. doi: 10.1016/s0022-3476(84)80997-x. [DOI] [PubMed] [Google Scholar]
  8. Holton J. B. Diagnosis of inherited metabolic diseases in severely ill children. Ann Clin Biochem. 1982 Nov;19(6):389–395. doi: 10.1177/000456328201900601. [DOI] [PubMed] [Google Scholar]
  9. Kronick J. B., Scriver C. R., Goodyer P. R., Kaplan P. B. A perimortem protocol for suspected genetic disease. Pediatrics. 1983 Jun;71(6):960–963. [PubMed] [Google Scholar]
  10. Leonard J. V., Daish P. Evaluation of cofactor responsiveness. J Inherit Metab Dis. 1985;8 (Suppl 1):17–19. doi: 10.1007/BF01800654. [DOI] [PubMed] [Google Scholar]
  11. Naglak M., Salvo R., Madsen K., Dembure P., Elsas L. The treatment of isovaleric acidemia with glycine supplement. Pediatr Res. 1988 Jul;24(1):9–13. doi: 10.1203/00006450-198807000-00004. [DOI] [PubMed] [Google Scholar]
  12. O'Connor J. E., Costell M., Grisolía S. The potentiation of ammonia toxicity by sodium benzoate is prevented by L-carnitine. Biochem Biophys Res Commun. 1987 Jun 15;145(2):817–824. doi: 10.1016/0006-291x(87)91038-2. [DOI] [PubMed] [Google Scholar]
  13. O'Connor J. E., Ribelles M., Grisolia S. Potentiation of hyperammonemia by sodium benzoate in animals. A note of caution. Eur J Pediatr. 1982 Mar;138(2):186–187. doi: 10.1007/BF00441151. [DOI] [PubMed] [Google Scholar]
  14. Oh M. S., Carroll H. J. The anion gap. N Engl J Med. 1977 Oct 13;297(15):814–817. doi: 10.1056/NEJM197710132971507. [DOI] [PubMed] [Google Scholar]
  15. Robinson B. H., Taylor J., Sherwood W. G. The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis. Pediatr Res. 1980 Aug;14(8):956–962. doi: 10.1203/00006450-198008000-00013. [DOI] [PubMed] [Google Scholar]
  16. Stanley C. A. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Adv Pediatr. 1987;34:59–88. [PubMed] [Google Scholar]
  17. Stephenson J. B. Inherited peroxisomal disorders involving the nervous system. Arch Dis Child. 1988 Jul;63(7):767–770. doi: 10.1136/adc.63.7.767. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Wendel U., Wieland J., Bremer H. J., Bachmann C. Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration. Eur J Pediatr. 1989 Jan;148(4):349–352. doi: 10.1007/BF00444132. [DOI] [PubMed] [Google Scholar]

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