枫糖尿症是支链氨基酸代谢异常的体染色体隐性遗传疾病。
Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.
遗传性嗜中性白血球减少症是一种常染色体隐性遗传疾病,该疾病导致成体中性粒细胞无法从骨髓迁移到血液中。
Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.
所谓隐性遗传疾病,像“泰-萨克斯病”、“囊性纤维化”,以及被称为“地中海贫血症”的血细胞疾病,都很罕见。
So-called recessively inherited disorders, such as Tay-Sachs disease, cystic fibrosis and red blood cell disorders known as thalessemias are rare.
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