Methylmalonic acidemia with homocystinuria 甲基丙二酸血症伴合并高胱氨酸尿症
inherited methylmalonic acidemia and homocystinuria 遗传性甲基丙二酸血症和高胱氨酸尿血症
英语例句库
Conclusion: Homocystinuria is a rare autosomal-recessive disorder with multiple systemic complications.Progressive myopia and ectopia lentis are common presenting signs in such patients. 结论:高胱胺酸尿症为一少见之体染色体隐性遗传疾病,可导致多样全身并发症,其中最常以渐进性近视及水晶体异位呈现。
Classical homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected.