Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report

Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration. Herein, we report a case of a one‐and‐...

Descripción completa

Detalles Bibliográficos
Autores principales: Yokoi, Katsuyuki, Nakajima, Yoko, Takahashi, Yoshihisa, Hamajima, Takashi, Tajima, Go, Saito, Kazuyoshi, Miyai, Shunsuke, Inagaki, Hidehito, Yoshikawa, Tetsushi, Kurahashi, Hiroki, Ito, Tetsuya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830013/
https://www.ncbi.nlm.nih.gov/pubmed/36636595
http://dx.doi.org/10.1002/jmd2.12275

Ejemplares similares

Ejemplares similares