Associated Papers
Corrigendum to "A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant With Severe High Anion Gap Acidosis and Review of the Literature".
Unknown Author
Case Reports in Genetics, 2025
A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature.
Puvabanditsin S et al.
Case Reports in Genetics, 2024
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.
Taura Y et al.
Human Genome Variation, 2023
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
François-Heude MC et al.
European Journal of Neurology, 2022
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Marti-Sanchez L et al.
Journal of Inherited Metabolic Disease, 2021
Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.
Wang J et al.
Frontiers in Pharmacology, 2021
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
D'Gama AM et al.
American Journal of Medical Genetics. Part A, 2020
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.
Yamada K et al.
Molecular Genetics and Metabolism Reports, 2014
3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation.
Çakar NE et al.
Annals of Indian Academy of Neurology, 0
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