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...

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Guardat en:
Dades bibliogràfiques
Publicat a:Intern Med
Autors principals: Fuseya, Yasuhiro, Sakurai, Takeyo, Miyahara, Jun-ichi, Sato, Kei, Kaji, Seiji, Saito, Yoshihiko, Takahashi, Makio, Nishino, Ichizo, Fukuda, Tokiko, Sugie, Hideo, Yamashita, Hirofumi
Format: Artigo
Idioma:Inglês
Publicat: The Japanese Society of Internal Medicine 2020
Matèries:
Case Report
Accés en línia: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
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