Literature DB >> 4730214

Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts.

U Wendel, W Wöhler, H W Goedde, U Langenbeck, E Passarge, H W Rüdiger.   

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Year:  1973        PMID： 4730214     DOI： 10.1016/0009-8981(73)90046-6

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


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  11 in total

1.  Maple syrup urine disease: rapid prenatal diagnosis by enzyme assay.

Authors:  U Wendel; H W Rüdiger; E Passarge; M Mikkelsen
Journal:  Humangenetik       Date:  1973

2.  Maple syrup urine disease variant: report on an infant.

Authors:  P Koepp; C Rybak; H W Rüdiger; U Wendel
Journal:  Z Kinderheilkd       Date:  1974-02-11

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.  Comparative metabolic effects of fructose and glucose in human fibroblast cultures.

Authors:  B Delhotal-Landes; F Lemonnier; M Couturier; J P Carreau; M Gautier; A Lemonnier
Journal:  In Vitro Cell Dev Biol       Date:  1987-05

5.  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

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.  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.  Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings.

Authors:  W Lehnert; U Wendel; S Lindenmaier; N Böhm
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

9.  A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria.

Authors:  A Kohlschütter; A Behbehani; U Langenbeck; M Albani; P Heidemann; G Hoffmann; J Kleineke; W Lehnert; U Wendel
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

10.  Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects.

Authors:  D T Chuang; W L Niu; R P Cox
Journal:  Biochem J       Date:  1981-10-15       Impact factor: 3.857
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