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...

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Váldodahkkit:	Katsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, Takashi Hamajima, Go Tajima, Kazuyoshi Saito, Shunsuke Miyai, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi, Tetsuya Ito
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Wiley 2023-01-01
Ráidu:	JIMD Reports
Fáttát:	C14:1 eXome Hidden Markov Model TANGO2 VLCAD whole‐exome sequencing
Liŋkkat:	https://doi.org/10.1002/jmd2.12275
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