Literature DB >> 668138

A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease.

A H Fensom, P F Benson, J E Baker.   

Abstract

A sensitive assay for measurement of branched-chain keto acid decarboxylation in small numbers of fibroblasts or amniotic cells grown in the wells of a microtitre plate using [1-14C]leucine as substrate is described. The method was applied to the amniotic cells from a pregnancy at risk for maple syrup urine disease and a heterozygous fetus predicted.

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Year:  1978        PMID： 668138     DOI： 10.1016/0009-8981(78)90072-4

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  7 in total

1.  Maple syrup urine disease: An uncommon cause for neonatal metabolic distress.

Authors:  R Christopher; S V Babu; L Nirmala; G R Rangaswamy; C P Narayan; K T Shetty
Journal:  Indian J Clin Biochem       Date:  1999-07

2.  Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.

Authors:  P E Polani; E Alberman; B J Alexander; P F Benson; A C Berry; S Blunt; M G Daker; A H Fensom; D M Garrett; V M McGuire; J A Roberts; M J Seller; J D Singer
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

3.  Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.

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

4.  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

5.  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

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.  Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line.

Authors:  R S Eisenstein; G Hoganson; R H Miller; A E Harper
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  7 in total

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