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词汇 lipochondrodystrophy
分类 英语词汇 英语翻译词典
释义

lipochondrodystrophy

英汉-汉英词典
n. 脂质软骨营养障碍
词组 | 习惯用语

网络短语:
lipochondrodystrophy 脂质软骨营养不良; 脂肪软骨营养不良症;
英语百科

Hurler syndrome

(重定向自Lipochondrodystrophy)
Hurler syndrome has an autosomal recessive pattern of inheritance.

Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage.

近义、反义、联想词
近义词
n.
mucopolysaccharidosis, monogenic disorder, monogenic disease

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