Literature DB >> 7564254

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase.

S Kmoch1, J Zeman, M Hrebícek, L Ryba, M J Kristensen, N Gregersen.   

Abstract

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Year:  1995        PMID： 7564254     DOI： 10.1007/BF00711774

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


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  6 in total

1.  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

2.  Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.

Authors:  P M Coates; D E Hale; G Finocchiaro; K Tanaka; S C Winter
Journal:  J Clin Invest       Date:  1988-01       Impact factor: 14.808

3.  Amino acid polymorphism (Gly209Ser) in the ACADS gene.

Authors:  M J Kristensen; S Kmoch; P Bross; B S Andresen; N Gregersen
Journal:  Hum Mol Genet       Date:  1994-09       Impact factor: 6.150

4.  In vitro effects of valproate and valproate metabolites on mitochondrial oxidations. Relevance of CoA sequestration to the observed inhibitions.

Authors:  S Ponchaut; F van Hoof; K Veitch
Journal:  Biochem Pharmacol       Date:  1992-06-09       Impact factor: 5.858

5.  Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.

Authors:  B A Amendt; C Greene; L Sweetman; J Cloherty; V Shih; A Moon; L Teel; W J Rhead
Journal:  J Clin Invest       Date:  1987-05       Impact factor: 14.808

6.  Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome.

Authors:  R J Wanders; C W van Roermund; C T de Vries; H van den Bosch; G Schrakamp; J M Tager; A W Schram; R B Schutgens
Journal:  Clin Chim Acta       Date:  1986-08-30       Impact factor: 3.786
  6 in total
  7 in total

Review 1.  Short-chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  Reena Jethva; Michael J Bennett; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2008-11-05       Impact factor: 4.797

2.  Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect.

Authors:  Christopher C Marohnic; Satya P Panda; Karen McCammon; José Rueff; Bettie Sue Siler Masters; Michel Kranendonk
Journal:  Drug Metab Dispos       Date:  2009-11-02       Impact factor: 3.922

3.  Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.

Authors:  Karen M McCammon; Satya P Panda; Chuanwu Xia; Jung-Ja P Kim; Daniela Moutinho; Michel Kranendonk; Richard J Auchus; Eileen M Lafer; Debashis Ghosh; Pavel Martasek; Rekha Kar; Bettie Sue Masters; Linda J Roman
Journal:  J Biol Chem       Date:  2016-08-05       Impact factor: 5.157

Review 4.  Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.

Authors:  Zahra Nochi; Rikke Katrine Jentoft Olsen; Niels Gregersen
Journal:  J Inherit Metab Dis       Date:  2017-05-17       Impact factor: 4.982

5.  Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.

Authors:  Pilar Gonzalez-Cabo; Sheila Ros; Francesc Palau
Journal:  PLoS One       Date:  2010-01-25       Impact factor: 3.240

Review 6.  Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

Authors:  Bianca T van Maldegem; Ronald J A Wanders; Frits A Wijburg
Journal:  J Inherit Metab Dis       Date:  2010-04-29       Impact factor: 4.982

Review 7.  Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.

Authors:  Signe Mosegaard; Graziana Dipace; Peter Bross; Jasper Carlsen; Niels Gregersen; Rikke Katrine Jentoft Olsen
Journal:  Int J Mol Sci       Date:  2020-05-28       Impact factor: 5.923
  7 in total

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