Literature DB >> 2326309

The L-3-hydroxyacyl-CoA dehydrogenase deficiency.

D E Hale1, C Thorpe, K Braat, J H Wright, C R Roe, P M Coates, T Hashimoto, A M Glasgow.   

Abstract

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Year:  1990        PMID： 2326309

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  9 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.

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

3.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.

Authors:  R J Wanders; L Ijlst; M Duran; C Jakobs; J B de Klerk; H Przyrembel; F Rocchiccioli; P Aubourg
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

4.  Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease.

Authors:  C E Mize; L J Waber; T Anderson; M J Bennett
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

5.  Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.

Authors:  I Schrijver-Wieling; G H van Rens; D Wittebol-Post; J A Smeitink; J P de Jager; H B de Klerk; G H van Lith
Journal:  Br J Ophthalmol       Date:  1997-04       Impact factor: 4.638

6.  Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  J Bergoffen; P Kaplan; D E Hale; M J Bennett; G T Berry
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

7.  Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

Authors:  T Kamijo; R J Wanders; J M Saudubray; T Aoyama; A Komiyama; T Hashimoto
Journal:  J Clin Invest       Date:  1994-04       Impact factor: 14.808

8.  Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

Authors:  S V Pande; M Brivet; A Slama; F Demaugre; C Aufrant; J M Saudubray
Journal:  J Clin Invest       Date:  1993-03       Impact factor: 14.808

9.  Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  M J Bennett; M J Weinberger; W G Sherwood; A B Burlina
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  9 in total

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