Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease

Gaucher disease (GD) is an inherited lysosomal storage disease caused by mutations in the glucocerebrosidase gene. The decrease of glucocerebrosidase activity in lysosomes results in the accumulation of its substrate glucocerebroside in the lysosomes of macrophages in organs such as the liver, splee...

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Detalles Bibliográficos
Autores principales: Zhu, Jianfang, Sun, Yuxiao, Zheng, Weiyan, Wang, Chunlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098188/
https://www.ncbi.nlm.nih.gov/pubmed/37063666
http://dx.doi.org/10.3389/fped.2023.1057574

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098188/
https://www.ncbi.nlm.nih.gov/pubmed/37063666
http://dx.doi.org/10.3389/fped.2023.1057574

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