论文信息 - Asymptomatic and late‐onset ornithine transcarbamylase (OTC) deficiency in males of a five‐generation family, caused by an A208T mutation - 字舞流文

Asymptomatic and late‐onset ornithine transcarbamylase (OTC) deficiency in males of a five‐generation family, caused by an A208T mutation

E. Bakker | J. Smeitink | A. Reuser | M. Ausems | E. Pronicka | J. Zaremba | A. M. Boer | O. Diggelen | D. Rokicki | J. Keulemans | A. Kneppers | E. Tarnowska-Dziduszko | J. Kowalczyk | Wang He