A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a ca...

por Vafaee-Shahi, Mohammad, Ghasemi, Saeide, Riahi, Aina, Sadr, Zahra
Publicado 2022

A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss;...

por VAFAEE SHAHI, Mohammad, GHASEMI, Saeide, TAHERNIA, Leila, RIAHI, Aina
Publicado 2022

Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation

por Vafaee‐Shahi, Mohammad, Ghasemi, Saeide, Beiraghi Toosi, Mehran, Ashrafi, Mahmoud Reza, Badv, Reza Shervin, Tavasoli, Ali Reza, Tahernia, Leila
Publicado 2021