... 肌肉代谢疾病 Metabolic Diseases of Muscle 遗传性代谢疾病 inherited metabolic disorders 内分泌和代谢疾病 Endocrine and Metabolic Disorders ...
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遗传性内分泌代谢疾病 Hereditary endocrine and metabolic diseases
甲基丙二酸血症是由于甲基丙二酰辅酶A变位酶或其辅酶腺苷钴胺素缺陷所致的一种遗传性代谢疾病。
Methylmalonic acidemia is an inherited metabolic disorder, which is caused by deficiency of methylmalonyl-coenzyme a mutase or its cofactor adenosylcobalamin.
本文将根据致病基因功能，对近年来遗传性内分泌代谢性疾病取得的进展进行阐述。
This review will focus on the recent development of hereditary endocrine and metabolic diseases according to the functional classification of the mutant genes.
遗传性内分泌代谢性疾病是内分泌代谢疾病中相当重要的一组疾病，临床表现复杂多变，诊治困难。
Hereditary endocrine and metabolic diseases were an important group of diseases, and with complicated clinical manifestations, it is hard to diagnose and treat.
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