Literature DB >> 2246866

A new variant of glutaric aciduria type II: deficiency of beta-subunit of electron transfer flavoprotein.

S Yamaguchi1, T Orii, K Maeda, M Oshima, T Hashimoto.   

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Year:  1990        PMID： 2246866     DOI： 10.1007/bf01799588

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


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  7 in total

1.  Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.

Authors:  F E Frerman; S I Goodman
Journal:  Proc Natl Acad Sci U S A       Date:  1985-07       Impact factor: 11.205

2.  Glutaric aciduria type II: report on a previously undescribed metabolic disorder.

Authors:  H Przyrembel; U Wendel; K Becker; H J Bremer; L Bruinvis; D Ketting; S K Wadman
Journal:  Clin Chim Acta       Date:  1976-01-16       Impact factor: 3.786

3.  Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.

Authors:  Y Ikeda; S M Keese; K Tanaka
Journal:  J Clin Invest       Date:  1986-10       Impact factor: 14.808

4.  Purification and properties of rat liver acyl-CoA dehydrogenases and electron transfer flavoprotein.

Authors:  S Furuta; S Miyazawa; T Hashimoto
Journal:  J Biochem       Date:  1981-12       Impact factor: 3.387

5.  Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.

Authors:  S Yamaguchi; T Orii; N Sakura; S Miyazawa; T Hashimoto
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

6.  Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders.

Authors:  W J Rhead; J A Wolff; M Lipson; P Falace; N Desai; K Fritchman; A Moon; L Sweetman
Journal:  Pediatr Res       Date:  1987-04       Impact factor: 3.756

Review 7.  Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.

Authors:  G N Wilson; J P de Chadarévian; P Kaplan; J P Loehr; F E Frerman; S I Goodman
Journal:  Am J Med Genet       Date:  1989-03
  7 in total
  2 in total

1.  Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution.

Authors:  D L Roberts; F E Frerman; J J Kim
Journal:  Proc Natl Acad Sci U S A       Date:  1996-12-10       Impact factor: 11.205

2.  Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.

Authors:  Maria Sofia Cotelli; Valentina Vielmi; Marco Rimoldi; Manuela Rizzetto; Barbara Castellotti; Valeria Bertasi; Alice Todeschini; Valeria Gregorelli; Carla Baronchelli; Cinzia Gellera; Alessandro Padovani; Massimiliano Filosto
Journal:  Neurol Sci       Date:  2011-12-22       Impact factor: 3.307
  2 in total

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