Literature DB >> 1438397

Identification of the molecular defects responsible for the various genotypes of isovaleric acidemia.

J Vockley1, B Parimoo, M Nagao, K Tanaka.   

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Year:  1992        PMID: 1438397

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN: 0361-7742


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  7 in total

1.  Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening.

Authors:  R S Carling; D Burden; I Hutton; R Randle; K John; J R Bonham
Journal:  JIMD Rep       Date:  2017-06-20

Review 2.  Newborn screening: After the thrill is gone.

Authors:  Jerry Vockley
Journal:  Mol Genet Metab       Date:  2007-07-02       Impact factor: 4.797

3.  Identification and characterization of new long chain acyl-CoA dehydrogenases.

Authors:  Miao He; Zhengtong Pei; Al-Walid Mohsen; Paul Watkins; Geoffrey Murdoch; Paul P Van Veldhoven; Regina Ensenauer; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2010-12-17       Impact factor: 4.797

4.  Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands.

Authors:  Al-Walid A Mohsen; Jerry Vockley
Journal:  Biochimie       Date:  2014-11-18       Impact factor: 4.079

5.  Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.

Authors:  J Vockley; P K Rogan; B D Anderson; J Willard; R S Seelan; D I Smith; W Liu
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

Review 6.  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

7.  A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

Authors:  M He; S L Rutledge; D R Kelly; C A Palmer; G Murdoch; N Majumder; R D Nicholls; Z Pei; P A Watkins; J Vockley
Journal:  Am J Hum Genet       Date:  2007-06-04       Impact factor: 11.025

  7 in total

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