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Article

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

Journal of medical case reports - 12 Jan 2022

Barzegar Mohammad, Valaee Fatemeh, Ghoreishizadeh Shadi

Abstract excerpt

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 into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with...

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PMID: 35016719
DOI: 10.1186/s13256-021-03136-2
PMCID: PMC8753839

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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