Literature DB >> 2468820

Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method.

R J Wanders1, R B Schutgens, B H Zoeters.   

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Year:  1988        PMID： 2468820     DOI： 10.1007/bf01800436

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Authors:  S J Wysocki; R Hähnel
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.

Authors:  R J Wanders; R B Schutgens; P H Zoeters
Journal:  Clin Chim Acta       Date:  1988-01-15       Impact factor: 3.786
  2 in total
  2 in total

1.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: biochemical studies and family investigation of four generations.

Authors:  V Barash; H Mandel; S Sella; R Geiger
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Molecular basis of 3-hydroxy-3-methylglutaric aciduria.

Authors:  J Pie; N Casals; B Puisac; F G Hegardt
Journal:  J Physiol Biochem       Date:  2003-12       Impact factor: 4.158
  2 in total

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