Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia-Reference-Cited by-同舟云学术

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

Published:2014-10 Issue:10 Volume:57 Page:596-601
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference27 articles.

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2. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening;Ensenauer;Am J Hum Genet,2004

3. Chronic intermittent form of isovaleric acidemia mimicking diabetic ketoacidosis;Erdem;J Pediatr Endocrinol Metab,2010

4. Clinical and neurocognitive outcome in symptomatic isovaleric acidemia;Grünert;Orphanet J Rare Dis,2012

5. Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene;Hertecant;Eur J Med Genet,2012

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1. A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia;CLIN LAB;2023

2. Analysis of the genotype–phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review;Frontiers in Neurology;2022-07-28

3. Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia;Molecular Genetics and Metabolism Reports;2022-06

4. Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?;Journal of Assisted Reproduction and Genetics;2022-01-29

5. Newborn screening for isovaleric acidemia in Quanzhou, China;Clinica Chimica Acta;2020-10