Literature DB >> 14264316

DETECTION OF THE HETEROZYGOTE IN MAPLE SYRUP URINE DISEASE.

J DANCIS, J HUTZLER, M LEVITZ.   

Abstract

Keywords:  AMINO ACID METABOLISM; AMINO ACIDS; CARBON ISOTOPES; CARBOXY-LYASES; CHROMATOGRAPHY; ENZYME TESTS; FAMILY; GENETICS, HUMAN; LEUKOCYTES; MAPLE SYRUP URINE DISEASE

Mesh：

Substances：

Year:  1965        PMID： 14264316     DOI： 10.1016/s0022-3476(65)80123-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  4 in total

1.  Abnormal amino acid metabolism and brain protein synthesis during neural development.

Authors:  J V Hughes; T C Johnson
Journal:  Neurochem Res       Date:  1978-08       Impact factor: 3.996

2.  Antenatal diagnosis of maple syrup urine disease.

Authors:  J J Hoo; E Latta; E Schaumlöffel
Journal:  Z Kinderheilkd       Date:  1974

3.  Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids.

Authors:  J Dancis; J Hutzler; R P Cox
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

4.  Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

Authors:  D T Chuang; L S Ku; D S Kerr; R P Cox
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025
  4 in total

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