Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: Fuseya, Yasuhiro, Sakurai, Takeyo, Miyahara, Jun-ichi, Sato, Kei, Kaji, Seiji, Saito, Yoshihiko, Takahashi, Makio, Nishino, Ichizo, Fukuda, Tokiko, Sugie, Hideo, Yamashita, Hirofumi
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7691026/
https://ncbi.nlm.nih.gov/pubmed/32669490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.4604-20
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados