Maple syrup urine disease: coenzyme function and prenatal monitoring
- PMID: 4857216
- DOI: 10.1016/0026-0495(74)90085-7
Maple syrup urine disease: coenzyme function and prenatal monitoring
Similar articles
-
A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.Am J Med. 1970 Jul;49(1):118-24. doi: 10.1016/s0002-9343(70)80121-8. Am J Med. 1970. PMID: 5431474 No abstract available.
-
Intermittent branched chain ketonuria (variant of maple syrup urine disease).Clin Biochem. 1971 Jun;4(2):52-8. doi: 10.1016/s0009-9120(71)90611-4. Clin Biochem. 1971. PMID: 5128296 No abstract available.
-
An 11-day-old boy with lethargy, poor feeding, vomiting. Maple syrup urine disease.Pediatr Ann. 2005 Oct;34(10):772-4. doi: 10.3928/0090-4481-20051001-07. Pediatr Ann. 2005. PMID: 16285630 No abstract available.
-
Semiquantitation of leucine, isoleucine, and valine by thin-layer chromatography in management of maple-syrup urine diseases.Clin Chem. 1972 May;18(5):413-6. Clin Chem. 1972. PMID: 5019114 No abstract available.
-
[MAPLE SYRUP URINE DISEASE].Maandschr Kindergeneeskd. 1963 Oct;31:337-47. Maandschr Kindergeneeskd. 1963. PMID: 14100237 Review. Dutch. No abstract available.
Cited by
-
Branched-chain ketoacid dehydrogenase activity and growth of normal and mutant human fibroblasts: the effect of branched-chain amino acid concentration in culture medium.Biochem Genet. 1983 Oct;21(9-10):895-905. doi: 10.1007/BF00483948. Biochem Genet. 1983. PMID: 6661177
-
Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.Am J Hum Genet. 1982 May;34(3):416-24. Am J Hum Genet. 1982. PMID: 7081220 Free PMC article.
-
Antibodies to bovine liver branched-chain 2-oxo acid dehydrogenase cross-react with this enzyme complex from other tissues and species.Biochem J. 1983 Aug 1;213(2):339-44. doi: 10.1042/bj2130339. Biochem J. 1983. PMID: 6412683 Free PMC article.
-
A simple and rapid enzymatic assay for the branched-chain alpha-ketoacid dehydrogenase complex using high-performance liquid chromatography.J Inherit Metab Dis. 2004;27(5):633-9. doi: 10.1023/b:boli.0000042988.31581.ed. J Inherit Metab Dis. 2004. PMID: 15669679
-
Prenatal diagnosis of genetic disorders.J Med Genet. 1976 Jun;13(3):182-94. doi: 10.1136/jmg.13.3.182. J Med Genet. 1976. PMID: 58990 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical