Literature DB >> 7967472

Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.

U von Döbeln1, N Venizelos, M Westgren, L Hagenfeldt.   

Abstract

Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by analysis of the enzyme activity in a chorionic villus biopsy obtained in the 10th week of pregnancy. The diagnosis was confirmed in liver tissue and cultured fibroblasts from the aborted fetus.

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Year:  1994        PMID： 7967472     DOI： 10.1007/BF00711615

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


  10 in total

1.  Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre- and postnatal diagnosis.

Authors:  R J Wanders; L Ijlst
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.

Authors:  R J Wanders; L IJlst; A H van Gennip; C Jakobs; J P de Jager; L Dorland; F J van Sprang; M Duran
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  H Przyrembel; C Jakobs; L IJlst; J B de Klerk; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

4.  First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.

Authors:  C Pérez-Cerdá; B Merinero; A Jiménez; M J García; P Sanz; L Ijlst; R J Wanders; M Ugarte
Journal:  Prenat Diagn       Date:  1993-06       Impact factor: 3.050

5.  Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.

Authors:  B Wilcken; K C Leung; J Hammond; R Kamath; J V Leonard
Journal:  Lancet       Date:  1993-02-13       Impact factor: 79.321

6.  Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.

Authors:  F Rocchiccioli; R J Wanders; P Aubourg; C Vianey-Liaud; L Ijlst; M Fabre; N Cartier; P F Bougneres
Journal:  Pediatr Res       Date:  1990-12       Impact factor: 3.756

7.  Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.

Authors:  E Bertini; C Dionisi-Vici; B Garavaglia; A B Burlina; M Sabatelli; M Rimoldi; A Bartuli; G Sabetta; S DiDonato
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

8.  beta-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria.

Authors:  N Venizelos; L Ijlst; R J Wanders; L Hagenfeldt
Journal:  Pediatr Res       Date:  1994-07       Impact factor: 3.756

9.  3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.

Authors:  L Hagenfeldt; U von Döbeln; E Holme; J Alm; G Brandberg; E Enocksson; L Lindeberg
Journal:  J Pediatr       Date:  1990-03       Impact factor: 4.406

10.  Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts.

Authors:  S E Olpin; N J Manning; K Carpenter; B Middleton; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  10 in total

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