Literature DB >> 1405469

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

R J Wanders1, L Ijlst.   

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Year:  1992        PMID： 1405469     DOI： 10.1007/bf02435975

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


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  10 in total

1.  Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Authors:  C Dionisi Vici; A B Burlina; E Bertini; C Bachmann; M R Mazziotta; F Zacchello; G Sabetta; D E Hale
Journal:  J Pediatr       Date:  1991-05       Impact factor: 4.406

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.  The long-chain 3-hydroxyacyl-CoA dehydrogenase of human liver mitochondria.

Authors:  K Carpenter; B Middleton; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

5.  Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

Authors:  B T Poll-The; J P Bonnefont; H Ogier; C Charpentier; A Pelet; J M Le Fur; C Jakobs; R M Kok; M Duran; P Divry
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

6.  The L-3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  D E Hale; C Thorpe; K Braat; J H Wright; C R Roe; P M Coates; T Hashimoto; A M Glasgow
Journal:  Prog Clin Biol Res       Date:  1990

7.  3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.

Authors:  M Duran; R J Wanders; J P de Jager; L Dorland; L Bruinvis; D Ketting; L Ijlst; F J van Sprang
Journal:  Eur J Pediatr       Date:  1991-01       Impact factor: 3.183

8.  Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: implications for postnatal detection of the disease.

Authors:  R J Wanders; Y R Purvis; H S Heymans; J A Bakkeren; G G Parmentier; J van Eldere; H Eyssen; H van den Bosch; J M Tager; R B Schutgens
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

9.  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

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

Authors:  S Jackson; K Bartlett; J Land; E R Moxon; R J Pollitt; J V Leonard; D M Turnbull
Journal:  Pediatr Res       Date:  1991-04       Impact factor: 3.756
  10 in total
  3 in total

1.  A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: potential for pre- and postnatal diagnosis.

Authors:  L Ijlst; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

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

Authors:  U von Döbeln; N Venizelos; M Westgren; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 3.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.

Authors:  A C Sewell; S W Bender; S Wirth; H Münterfering; L Ijlist; R J Wanders
Journal:  Eur J Pediatr       Date:  1994-10       Impact factor: 3.183
  3 in total

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