Literature DB >> 2019931

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

C Dionisi Vici1, A B Burlina, E Bertini, C Bachmann, M R Mazziotta, F Zacchello, G Sabetta, D E Hale.   

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Year:  1991        PMID： 2019931     DOI： 10.1016/s0022-3476(05)80039-3

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  12 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.  Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation.

Authors:  Annie M Behrend; Cary O Harding; James D Shoemaker; Dietrich Matern; David J Sahn; Diane L Elliot; Melanie B Gillingham
Journal:  Mol Genet Metab       Date:  2011-10-01       Impact factor: 4.797

3.  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

4.  Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

Authors:  J A Ibdah; I Tein; C Dionisi-Vici; M J Bennett; L IJlst; B Gibson; R J Wanders; A W Strauss
Journal:  J Clin Invest       Date:  1998-09-15       Impact factor: 14.808

5.  Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.

Authors:  W Ruitenbeek; P J Poels; D M Turnbull; B Garavaglia; R A Chalmers; R W Taylor; F J Gabreëls
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-02       Impact factor: 10.154

6.  Combined enzyme defect of mitochondrial fatty acid oxidation.

Authors:  S Jackson; R S Kler; K Bartlett; H Briggs; L A Bindoff; M Pourfarzam; D Gardner-Medwin; D M Turnbull
Journal:  J Clin Invest       Date:  1992-10       Impact factor: 14.808

7.  Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.

Authors:  R Moore; J F Glasgow; M A Bingham; J A Dodge; R J Pollitt; S E Olpin; B Middleton; K Carpenter
Journal:  Eur J Pediatr       Date:  1993-05       Impact factor: 3.183

Review 8.  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

9.  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

Review 10.  New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders.

Authors:  P M Coates
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183
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