Literature DB >> 2326294

Isovaleric acidemia: personal history, clinical survey and study of the molecular basis.

K Tanaka1.   

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Year:  1990        PMID： 2326294

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


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  8 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

Review 3.  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.  Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.

Authors:  Olivia M D'Annibale; Erik A Koppes; Ahmad N Alodaib; Catherine Kochersperger; Anuradha Karunanidhi; Al-Walid Mohsen; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2021-08-30       Impact factor: 4.204

5.  An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report.

Authors:  Sho Miyamoto; Edward Hose Ntege; Yasutsugu Chinen; Takahiro Goto; Jumpei Shirakawa; Shimpei Goto; Toshihiro Kawano; Yusuke Shimizu; Koichi Nakanishi; Hiroyuki Nakamura
Journal:  Biomed Rep       Date:  2022-06-07

6.  Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.

Authors:  Sandra C Van Calcar; Mei W Baker; Phillip Williams; Susan A Jones; Blia Xiong; Mai Choua Thao; Sheng Lee; Mai Khou Yang; Greg M Rice; William Rhead; Jerry Vockley; Gary Hoffman; Maureen S Durkin
Journal:  Mol Genet Metab       Date:  2013-04-15       Impact factor: 4.797

Review 7.  Screening for defects of branched-chain amino acid metabolism.

Authors:  K M Gibson; C F Lee; G F Hoffmann
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

8.  Isovaleric acid reduces Na+, K+-ATPase activity in synaptic membranes from cerebral cortex of young rats.

Authors:  César A J Ribeiro; Fabrício Balestro; Vanessa Grando; Moacir Wajner
Journal:  Cell Mol Neurobiol       Date:  2007-03-30       Impact factor: 4.231
  8 in total

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