Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

BACKGROUND: Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of the natural history of the disease. Here we report NPC patien...

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Detalles Bibliográficos
Autores principales: Bolton, Shaun C., Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C., Vanier, Marie T., Geberhiwot, Tarekegn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842861/
https://www.ncbi.nlm.nih.gov/pubmed/35164809
http://dx.doi.org/10.1186/s13023-022-02200-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842861/
https://www.ncbi.nlm.nih.gov/pubmed/35164809
http://dx.doi.org/10.1186/s13023-022-02200-4

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