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- Barth P. G., Wanders R. J., Vreken P. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. J Pediatr. 1999 Sep;135(3):273–276. doi: 10.1016/s0022-3476(99)70118-6. [DOI] [PubMed] [Google Scholar]
- Clayton P. T. Disorders of cholesterol biosynthesis. Arch Dis Child. 1998 Feb;78(2):185–189. doi: 10.1136/adc.78.2.185. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cooke R. J., Jensen R. L. Plasma ammonia concentration during the first six postnatal months, as measured with an ammonium-selective electrode. Clin Chem. 1983 Aug;29(8):1563–1564. [PubMed] [Google Scholar]
- Falk M. C., Knight J. F., Roy L. P., Wilcken B., Schell D. N., O'Connell A. J., Gillis J. Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism. Pediatr Nephrol. 1994 Jun;8(3):330–333. doi: 10.1007/BF00866350. [DOI] [PubMed] [Google Scholar]
- Hoffmann G. F., Surtees R. A., Wevers R. A. Cerebrospinal fluid investigations for neurometabolic disorders. Neuropediatrics. 1998 Apr;29(2):59–71. doi: 10.1055/s-2007-973538. [DOI] [PubMed] [Google Scholar]
- Hudak M. L., Jones M. D., Jr, Brusilow S. W. Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation. J Pediatr. 1985 Nov;107(5):712–719. doi: 10.1016/s0022-3476(85)80398-x. [DOI] [PubMed] [Google Scholar]
- Ibdah J. A., Bennett M. J., Rinaldo P., Zhao Y., Gibson B., Sims H. F., Strauss A. W. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med. 1999 Jun 3;340(22):1723–1731. doi: 10.1056/NEJM199906033402204. [DOI] [PubMed] [Google Scholar]
- Imtiaz F., Worthington V., Champion M., Beesley C., Charlwood J., Clayton P., Keir G., Mian N., Winchester B. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis. 2000 Mar;23(2):162–174. doi: 10.1023/a:1005669900330. [DOI] [PubMed] [Google Scholar]
- Innes A. M., Seargeant L. E., Balachandra K., Roe C. R., Wanders R. J., Ruiter J. P., Casiro O., Grewar D. A., Greenberg C. R. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res. 2000 Jan;47(1):43–45. doi: 10.1203/00006450-200001000-00010. [DOI] [PubMed] [Google Scholar]
- Kelly D. A., Portmann B., Mowat A. P., Sherlock S., Lake B. D. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr. 1993 Aug;123(2):242–247. doi: 10.1016/s0022-3476(05)81695-6. [DOI] [PubMed] [Google Scholar]
- Kristiansson B., Stibler H., Conradi N., Eriksson B. O., Ryd W. The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I). J Inherit Metab Dis. 1998 Apr;21(2):112–124. doi: 10.1023/a:1005387408009. [DOI] [PubMed] [Google Scholar]
- Maestri N. E., Clissold D., Brusilow S. W. Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. J Pediatr. 1999 Mar;134(3):268–272. doi: 10.1016/s0022-3476(99)70448-8. [DOI] [PubMed] [Google Scholar]
- Poggi-Travert F., Martin D., Billette de Villemeur T., Bonnefont J. P., Vassault A., Rabier D., Charpentier C., Kamoun P., Munnich A., Saudubray J. M. Metabolic intermediates in lactic acidosis: compounds, samples and interpretation. J Inherit Metab Dis. 1996;19(4):478–488. doi: 10.1007/BF01799109. [DOI] [PubMed] [Google Scholar]
- Ryan A. K., Bartlett K., Clayton P., Eaton S., Mills L., Donnai D., Winter R. M., Burn J. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet. 1998 Jul;35(7):558–565. doi: 10.1136/jmg.35.7.558. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Schaefer F., Straube E., Oh J., Mehls O., Mayatepek E. Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant. 1999 Apr;14(4):910–918. doi: 10.1093/ndt/14.4.910. [DOI] [PubMed] [Google Scholar]
- Stone D. L., Sidransky E. Hydrops fetalis: lysosomal storage disorders in extremis. Adv Pediatr. 1999;46:409–440. [PubMed] [Google Scholar]
- Walter J. H. Inborn errors of metabolism and pregnancy. J Inherit Metab Dis. 2000 May;23(3):229–236. doi: 10.1023/a:1005679928521. [DOI] [PubMed] [Google Scholar]
- Walter J. H., Wraith J. E., Cleary M. A. Absence of acidosis in the initial presentation of propionic acidaemia. Arch Dis Child Fetal Neonatal Ed. 1995 May;72(3):F197–F199. doi: 10.1136/fn.72.3.f197. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wong K. Y., Wong S. N., Lam S. Y., Tam S., Tsoi N. S. Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration. Pediatr Nephrol. 1998 Sep;12(7):589–591. doi: 10.1007/s004670050511. [DOI] [PubMed] [Google Scholar]
- Yoshino M., Sakaguchi Y., Kuriya N., Ohtani Y., Yamashita F., Hashimoto T., Oyanagi K., Tada K., Narisawa K., Kitagawa T. A nationwide survey on transient hyperammonemia in newborn infants in Japan: prognosis of life and neurological outcome. Neuropediatrics. 1991 Nov;22(4):198–202. doi: 10.1055/s-2008-1071441. [DOI] [PubMed] [Google Scholar]
