Literature DB >> 1770786

Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.

M Brivet1, M Tardieu, A Khellaf, A Boutron, F Rocchiccioli, C A Haengeli, A Lemonnier.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1991        PMID: 1770786     DOI: 10.1007/bf01811696

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


× No keyword cloud information.
  6 in total

1.  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

2.  A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.

Authors:  N J Manning; S E Olpin; R J Pollitt; J Webley
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Complementation analysis of fatty acid oxidation disorders.

Authors:  A Moon; W J Rhead
Journal:  J Clin Invest       Date:  1987-01       Impact factor: 14.808

4.  Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.

Authors:  J M Saudubray; F X Coudé; F Demaugre; C Johnson; K M Gibson; W L Nyhan
Journal:  Pediatr Res       Date:  1982-10       Impact factor: 3.756

5.  Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment.

Authors:  N Gregersen; M F Christensen; E Christensen; S Kølvraa
Journal:  Acta Paediatr Scand       Date:  1986-07

Review 6.  Riboflavin-responsive defects of beta-oxidation.

Authors:  N Gregersen
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.