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Article

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.

European journal of medical genetics - 1 Oct 2014

Ozgul Rıza Koksal, Karaca Mehmet, Kilic Mustafa, Kucuk Ozgul, Yucel-Yilmaz Didem, Unal Ozlem, Hismi Burcu, Aliefendioglu Didem, Sivri Serap, Tokatli Aysegul, Coskun Turgay, Dursun Ali

Abstract excerpt

We aim to investigate the genetic basis of isovaleryl-CoA dehydrogenase (IVD) gene mutations and genotype-phenotype correlations in Turkish patients. Accordingly, bi-directional sequencing was performed to screen 26 patients with isovaleric acidemia (IVA). Nine novels (c.145delC, c.234 + 3G > C, c.506_507insT, p.Glu85Gln, p.Met147Val, p.Ala268Val, p.Ile287Met, p.Gly346Asp and p.Arg382Trp) and six previously...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25220015
DOI: 10.1016/j.ejmg.2014.08.006

Genes

IVD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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