A carregar...
Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene
Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phenotype with novel pathogenic variant. Thirteen-year-old boy pr...
Na minha lista:
| Publicado no: | J Pediatr Neurosci |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2021
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8276965/ https://ncbi.nlm.nih.gov/pubmed/34316315 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_63_20 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|