Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
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
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
Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.
Tan H et al.
Journal of Human Genetics, 2018
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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