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Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

BACKGROUND: Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann–Pick disease is categorized in...

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Detalles Bibliográficos
Autores principales: Barzegar, Mohammad, Valaee, Fatemeh, Ghoreishizadeh, Shadi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753839/
https://www.ncbi.nlm.nih.gov/pubmed/35016719
http://dx.doi.org/10.1186/s13256-021-03136-2