期刊
JOURNAL OF HUMAN GENETICS
卷 65, 期 3, 页码 345-349出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s10038-019-0704-3
关键词
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资金
- Shanghai Science and Technology Development Foundation (Shanghai Science and Technology Development Fund) [16JC1404600] Funding Source: Medline
- National Science Foundation of China | National Natural Science Foundation of China-Yunnan Joint Fund (NSFC-Yunnan Joint Fund) [81570516] Funding Source: Medline
Gaucher disease (GD) is a lysosomal storage disease caused by the deficiency of glucocerebrosidase characterized by a broad spectrum of clinical manifestations including hepatosplenomegaly, bone infiltration, and cytopenia, and even central nervous system involvement. Bone manifestations are typical of the GD-I and partially responded to mainstay therapy. Ambroxol (ABX), an approved cough-suppressant, was identified as an enzyme-enhancement agent of the residual activity of glucocerebrosidase mutants derived from different misfolding-mutations in the GBA gene. Here, we describe the early beneficial effects of ABX on skeletal and hematological manifestations of a child suffering with progressive GD-I.
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