A carregar...
Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature
BACKGROUND: Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping manifestations. Mutation analysis of the gene...
Na minha lista:
| Publicado no: | BMC Pediatr |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8050929/ https://ncbi.nlm.nih.gov/pubmed/33858366 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-021-02648-6 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|