【Yen-Ju Chu】評論

Ans: CMPS: defect of Glycosaminoglycan(GAGs) metabolism,  type I-VII(有些type沒有以下部分症狀)type I: α-L-iduronidaseMental deficiency, coarse facial features, corneal clouding, visceromegaly, short stature, joint contractures, dysostosis multiplex, leucocyte inclusions, mucopolysacchariduriaFabry disease: X-linked , defect of lyposomal glycosphingolipid metabolism by alpha-galactosidaseMale with classic phenotype: angiokeratomas, hypohidrosis, corneal and lenticular opacity, acroparethesias, vascular disease of kidney, heart and brain at advaced ageHeterozygous female: corneal opacities, is...