Literature DB >> 4761592

Diagnosis of isovaleric acidemia in cultured fibroblasts.

V E Shih, R Mandell, K Tanaka.   

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Year:  1973        PMID： 4761592     DOI： 10.1016/0009-8981(73)90425-7

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  4 in total

1.  Prenatal diagnosis and a case report of isovaleric acidaemia.

Authors:  M E Blaskovics; W G Ng; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

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.  Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

Authors:  Jaffar Alfardan; Al-Walid Mohsen; Sara Copeland; Jay Ellison; Laura Keppen-Davis; Marianne Rohrbach; Berkley R Powell; Jane Gillis; Dietrich Matern; Jeffrey Kant; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2010-05-23       Impact factor: 4.797

Review 4.  Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Authors:  Jerry Vockley; Regina Ensenauer
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-05-15       Impact factor: 3.908
  4 in total

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