Literature DB >> 4378266

Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism.

M A Budd, K Tanaka, L B Holmes, M L Efron, J D Crawford, K J Isselbacher.   

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Year:  1967        PMID： 4378266     DOI： 10.1056/NEJM196708172770701

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  23 in total

1.  Isovaleric, methylmalonic, and propionic acid decrease anesthetic EC50 in tadpoles, modulate glycine receptor function, and interact with the lipid 1,2-dipalmitoyl-Sn-glycero-3-phosphocholine.

Authors:  Yun Weng; Tienyi Theresa Hsu; Jing Zhao; Stefanie Nishimura; Gerald G Fuller; James M Sonner
Journal:  Anesth Analg       Date:  2009-05       Impact factor: 5.108

2.  Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.

Authors:  K Tanaka; R Mandell; V E Shih
Journal:  J Clin Invest       Date:  1976-07       Impact factor: 14.808

3.  Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.

Authors:  Y Matsubara; M Ito; R Glassberg; S Satyabhama; Y Ikeda; K Tanaka
Journal:  J Clin Invest       Date:  1990-04       Impact factor: 14.808

Review 4.  Lactulose, disaccharides and colonic flora. Clinical consequences.

Authors:  M R Clausen; P B Mortensen
Journal:  Drugs       Date:  1997-06       Impact factor: 9.546

5.  Set of simple side-room urine tests for detection of inborn errors of metabolism.

Authors:  N R Buist
Journal:  Br Med J       Date:  1968-06-22

6.  Effect of chain length of short-chain fatty acids on their effect on intracranial pressure in rabbits.

Authors:  D A Trauner; H Adams
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-05       Impact factor: 10.154

Review 7.  An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors:  S I Goodman
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

8.  Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.

Authors:  Yong-Wha Lee; Dong Hwan Lee; Jerry Vockley; Nam-Doo Kim; You Kyoung Lee; Chang-Seok Ki
Journal:  Mol Genet Metab       Date:  2007-06-18       Impact factor: 4.797

9.  Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

Authors:  B Dubiel; C Dabrowski; R Wetts; K Tanaka
Journal:  J Clin Invest       Date:  1983-11       Impact factor: 14.808

10.  Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.

Authors:  W J Rhead; K Tanaka
Journal:  Proc Natl Acad Sci U S A       Date:  1980-01       Impact factor: 11.205
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