Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis-Reference-Cited by-同舟云学术

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

Published:2014 Issue: Volume:1 Page:455-460
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Yamada Kenichiro,Naiki Misako,Hoshino Shin,Kitaura Yasuyuki,Kondo Yusuke,Nomura Noriko,Kimura Reiko,Fukushi Daisuke,Yamada Yasukazu,Shimozawa Nobuyuki,Yamaguchi Seiji,Shimomura Yoshiharu,Miura Kiyokuni,Wakamatsu Nobuaki

Funder

Takeda Science Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference17 articles.

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2. Purification and partial characterization of 3-hydroxyisobutyryl-coenzyme A hydrolase of rat liver;Shimomura;J. Biol. Chem.,1994

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

4. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase;Ferdinandusse;Orphanet J. Rare Dis.,2013

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

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