MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency
Author:
Publisher
Elsevier BV
Subject
Radiology, Nuclear Medicine and imaging
Reference19 articles.
1. 3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations;Karimzadeh;Clin Case Rep,2019
2. 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
3. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh’s disease;Stiles;Molec Genet Metab,2015
4. Disorders of branched chain amino acid metabolism;Manoli;Transl Sci Rare Dis,2016
5. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway;Wanders;J Inherit Metab Dis,2012
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A Fatal Case of 3‐Hydroxyisobutyryl‐CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature;Case Reports in Genetics;2024-01
2. Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies;European Journal of Neurology;2022-08-09
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