15月龄儿童戈谢病1例报告并文献复习

MedPress Pediatrics and Child Health Care Pub Date : 2022-08-22 DOI:10.33582/mppchc.2022.202207001

S. Hamwi, Huda Ali Mohamed, Abdulqader Jalani Al Zubaidi, Alaa Sattar Mehair, Amar Al Shibli

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引用次数: 0

摘要

戈谢病(Gaucher Disease, GD)是一种常染色体隐性的全体性溶酶体贮积性疾病，其特征是溶酶体β-糖苷酶(glucocerebrosidase)缺乏导致巨噬细胞-单核细胞系统细胞中糖脑苷沉积和不同器官中糖神经酰胺的积累。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Gaucher Disease in a 15-month-Old Child: A Case Report and Literature Review

Gaucher Disease (GD) is an autosomal recessive systemic lysosomal storage disorder, characterized by glucocerebroside deposition in cells of macrophage-monocyte system and accumulation of glucosylceramide in different organs as result of deficiency in lysosomal β-glycosidase (glucocerebrosidase).

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MedPress Pediatrics and Child Health Care

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