机译:临床特征,BTD BTD基因突变及其南方生物素酶缺乏症患者的功能研究
The Laboratory of Endocrinology and MetabolismGuangzhou Medical UniversityGuangzhou P.R. China;
The Laboratory of Endocrinology and MetabolismGuangzhou Medical UniversityGuangzhou P.R. China;
The Laboratory of Endocrinology and MetabolismGuangzhou Medical UniversityGuangzhou P.R. China;
The Laboratory of Endocrinology and MetabolismGuangzhou Medical UniversityGuangzhou P.R. China;
The Laboratory of Endocrinology and MetabolismGuangzhou Medical UniversityGuangzhou P.R. China;
The Laboratory of Endocrinology and MetabolismGuangzhou Medical UniversityGuangzhou P.R. China;
The Laboratory of Endocrinology and MetabolismGuangzhou Medical UniversityGuangzhou P.R. China;
The Laboratory of Endocrinology and MetabolismGuangzhou Medical UniversityGuangzhou P.R. China;
Department of Genetics and Endocrinology Guangzhou Women and Children's Medical CenterGuangzhou;
Department of Genetics and Endocrinology Guangzhou Women and Children's Medical CenterGuangzhou;
Department of Genetics and Endocrinology Guangzhou Women and Children's Medical CenterGuangzhou;
biotinidase deficiency; clinical features; definitive diagnosis; functional study; gene mutations;
机译:临床特征,BTD BTD基因突变及其南方生物素酶缺乏症患者的功能研究
机译:BTD突变导致生物素酶缺乏。
机译:匈牙利人群中生物素酶(BTD)基因突变的高频率
机译:因子vii缺乏:718个受试者的临床表现与FVII基因突变的临床表现和分子遗传学
机译:功能性蛋氨酸合酶缺乏症的分子遗传学和表征:突变分析和基因克隆。
机译:两种新的BTD突变导致中国患者的深刻生物素酶缺乏症
机译:PSY65患者报告的慢性下腰痛患者的生活质量,睡眠质量和对疼痛的功能障碍以及丁丙诺啡经皮系统(BTDS)治疗的影响之间的反应性