Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease-Reference-Cited by-同舟云学术

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Published:2015-08 Issue:4 Volume:115 Page:161-167
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Stiles Ashlee R.,Ferdinandusse Sacha,Besse Arnaud,Appadurai Vivek,Leydiker Karen B.,Cambray-Forker E.J.,Bonnen Penelope E.,Abdenur Jose E.

Funder

National Institute of Neurological Disorders and Stroke of the National Institutes of Health

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference35 articles.

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2. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration;Loupatty;Am. J. Hum. Genet.,2007

3. Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations;Brown;Pediatrics,1982

4. HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders;Reuter;Am. J. Med. Genet. A,2014

5. Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis;Yamada;Mol. Genet. Metab. Rep.,2014

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