A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations.

Amirkashani, Davoud; Asadollahi, Mostafa; Hosseini, Rozita; Talebi, Saeed; Golchehre, Zahra; Keramatipour, Mohammad.

Affiliation

Amirkashani D; Division of Endocrinology and Metabolism, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran.
Asadollahi M; Watson Genetic Laboratory, Tehran, Iran.
Hosseini R; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Talebi S; Department of Pediatric Nephrology, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran.
Golchehre Z; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Keramatipour M; Watson Genetic Laboratory, Tehran, Iran.

Iran J Child Neurol ; 17(2): 127-133, 2023.

Article in En | MEDLINE | ID: mdl-37091464