Literature DB >> 4857216

Maple syrup urine disease: coenzyme function and prenatal monitoring.

L J Elsas, J H Priest, F B Wheeler, D J Danner, B A Pask.   

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Year:  1974        PMID： 4857216     DOI： 10.1016/0026-0495(74)90085-7

Source DB:  PubMed          Journal:  Metabolism        ISSN： 0026-0495            Impact factor:   8.694


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  8 in total

Review 1.  Maple syrup urine disease 1954 to 1993.

Authors:  F Peinemann; D J Danner
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

2.  A simple and rapid enzymatic assay for the branched-chain alpha-ketoacid dehydrogenase complex using high-performance liquid chromatography.

Authors:  G Tajima; H Yofune; A D Bahagia Febriani; Y Nishimura; H Ono; N Sakura
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

3.  Prenatal diagnosis of genetic disorders.

Authors:  M F Niermeijer; E S Sachs; M Jahodova; C Tichelaar-Klepper; W J Kleijer; H Galjaard
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

4.  Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.

Authors:  Y Jinno; I Akaboshi; T Katsuki; I Matsuda
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Antibodies to bovine liver branched-chain 2-oxo acid dehydrogenase cross-react with this enzyme complex from other tissues and species.

Authors:  S C Heffelfinger; E T Sewell; D J Danner
Journal:  Biochem J       Date:  1983-08-01       Impact factor: 3.857

6.  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

7.  Branched-chain ketoacid dehydrogenase activity and growth of normal and mutant human fibroblasts: the effect of branched-chain amino acid concentration in culture medium.

Authors:  D J Danner; J H Priest
Journal:  Biochem Genet       Date:  1983-10       Impact factor: 1.890

8.  Distribution of branched-chain alpha-keto acid dehydrogenases in primate tissues.

Authors:  B S Khatra; R K Chawla; C W Sewell; D Rudman
Journal:  J Clin Invest       Date:  1977-03       Impact factor: 14.808
  8 in total

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