Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

BACKGROUND: Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD type 1 or nonneuronopathic GD; GD type 2 or acute neuronopathic GD; and GD type 3...

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Detalles Bibliográficos
Autores principales: Phetthong, Tim, Tim-Aroon, Thipwimol, Khongkraparn, Arthaporn, Noojarern, Saisuda, Kuptanon, Chulaluck, Wichajarn, Khunton, Sathienkijkanchai, Achara, Suphapeetiporn, Kanya, Charoenkwan, Pimlak, Tantiworawit, Adisak, Noentong, Naruwan, Wattanasirichaigoon, Duangrurdee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686639/
https://www.ncbi.nlm.nih.gov/pubmed/34930372
http://dx.doi.org/10.1186/s13023-021-02151-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686639/
https://www.ncbi.nlm.nih.gov/pubmed/34930372
http://dx.doi.org/10.1186/s13023-021-02151-2

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