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
"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency.
Gana S et al.
Movement Disorders Clinical Practice, 2024
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
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
Spitz MA et al.
Neuropediatrics, 2021
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
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
3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations.
Karimzadeh P et al.
Clinical Case Reports, 2019
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
Schottmann G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
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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