Cargando…
3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation
OBJECTIVE: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. METHODS: HIBCH gene analysis was performed in all cases...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370149/ https://www.ncbi.nlm.nih.gov/pubmed/34447000 http://dx.doi.org/10.4103/aian.AIAN_192_20 |