Literature DB >> 1959223

Inborn errors of fatty acid oxidation in man.

W J Rhead1.   

Abstract

Inborn errors of fatty acid oxidation have only been recently identified. The clinical and biochemical presentations of these disorders are presented, as are analytic, biochemical and enzymatic approaches to their diagnosis. Recent clinical, biochemical and molecular information is summarized in detail. The identification and characterization of riboflavin-responsive beta-oxidation disorders is discussed. Approaches for clinical and biochemical screening are also described for these disorders.

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Year:  1991        PMID： 1959223     DOI： 10.1016/0009-9120(91)80006-o

Source DB:  PubMed          Journal:  Clin Biochem        ISSN： 0009-9120            Impact factor:   3.281


  7 in total

Review 1.  Peroxisomal beta-oxidation enzymes.

Authors:  T Hashimoto
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  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

3.  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

4.  One-step synthesis of radioactive acyl-CoA and acylcarnitines using rat liver mitochondrial outer membrane as enzyme source.

Authors:  A K Bhuiyan; S V Pande
Journal:  Lipids       Date:  1992-05       Impact factor: 1.880

5.  Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.

Authors:  T Aoyama; M Souri; S Ushikubo; T Kamijo; S Yamaguchi; R I Kelley; W J Rhead; K Uetake; K Tanaka; T Hashimoto
Journal:  J Clin Invest       Date:  1995-06       Impact factor: 14.808

6.  Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.

Authors:  T Aoyama; M Souri; I Ueno; T Kamijo; S Yamaguchi; W J Rhead; K Tanaka; T Hashimoto
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

7.  Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.

Authors:  Mina Nakama; Hideo Sasai; Mitsuru Kubota; Yuki Hasegawa; Ryoji Fujiki; Torayuki Okuyama; Osamu Ohara; Toshiyuki Fukao
Journal:  Hum Genome Var       Date:  2020-04-02
  7 in total

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