Chinese 施奈德結晶狀角膜營養不良 Cited by user Richard923888 on 02 Apr 2022 施奈德結晶狀角膜營養不良(SCD),是一种罕见的角膜营养不良症。SCD是由UBIAD1基因的杂合突变引起。角膜中的细胞积累胆固醇和磷脂沉积物导致角膜變得混浊,若情況严重則需要進行角膜移植。患者的其他细胞类型(如皮肤成纤维细胞)中也可能會有异常的胆固醇代谢,顯示這可能是全身性疾病,但临床表现則只有角膜的SCD。.
English Schnyder crystalline corneal dystrophy Cited by user Rjwilmsi on 03 Jan 2011 Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene.
English UBIAD1 Cited by user Mesamuels on 30 Aug 2010 UbiA prenyltransferase domain-containing protein 1 (UBIAD1) also known as transitional epithelial response protein 1 (TERE1) is a protein that in humans is encoded by…