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

Abstract 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...

Descrizione completa

Dettagli Bibliografici

Autori principali:	Katsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, Takashi Hamajima, Go Tajima, Kazuyoshi Saito, Shunsuke Miyai, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi, Tetsuya Ito
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2023-01-01
Serie:	JIMD Reports
Soggetti:	C14:1 eXome Hidden Markov Model TANGO2 VLCAD whole‐exome sequencing
Accesso online:	https://doi.org/10.1002/jmd2.12275
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!