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Changing clinical manifestations of Gaucher disease in Taiwan

BACKGROUND: Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be classified into 3 subtypes based on the presence and extent of neurological manif...

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Detalles Bibliográficos
Autores principales:	Lu, Wen-Li, Chien, Yin-Hsiu, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chou, Yen-Yin, Chu, Shao-Yin, Li, Meng-Ju, Lee, An-Ju, Liao, Chao-Chuan, Wang, Chung-Hsing, Lee, Ni-Chung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502973/ https://www.ncbi.nlm.nih.gov/pubmed/37715271 http://dx.doi.org/10.1186/s13023-023-02895-z

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