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.
脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的常染色体隐性遗传病。
Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.
甘油激酶缺乏症(GKD)是一种少见的X染色体隐性遗传性代谢缺陷病,可分为单纯型和复合型。
Glycerol kinase deficiency (GKD), a rare X-linked recessive disorder, is classified into two types: isolated and complex.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
广泛性焦虑校正分离率为0.225,与常染色体隐性遗传的分离率0.25相比较,差异无显著性(P>0.05);
The segregative rate in generalized anxiety disorder was 0.225, which was not significantly different (P>0.05) from the segregation rate 0.25 in autosome recessive inheritance.
进行性家族性肝内胆汁淤积(PFIC)是一组常染色体隐性遗传肝细胞源性儿童胆汁淤积症。
Progressive familial intrahepatic choleatasia(PFIC)is an autosomal recessive inherited children liver cholestasis characterized by severe jaundice and pruritus.
结果:①ATD是一种少见的常染色体隐性遗传性骨软骨发育不良疾病。
Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.
丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型。
Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .
常染色体隐性遗传性多囊肾又称婴儿型多囊肾,为多囊肾中少见类型。
Autosomal recessive polycystic kidney disease also known as infantile polycystic kidney disease, polycystic kidney in the rare type.
儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病,为常染色体隐性遗传。
Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.
儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病,为常染色体隐性遗传。
Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.
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