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A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative

BACKGROUND: Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder. GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because they have brain involvement that progresses over time. Implementing a systematic approach to the collection of real-world clinical and...

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Detalles Bibliográficos
Autores principales:	Collin-Histed, Tanya, Stoodley, Madeline, Beusterien, Kathleen, Elstein, Deborah, Jaffe, Dena H., Revel-Vilk, Shoshana, Davies, Elin Haf
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360308/ https://www.ncbi.nlm.nih.gov/pubmed/37480076 http://dx.doi.org/10.1186/s13023-023-02828-w

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