Niemann-Pick Diseases - The Medical Biochemistry Page
Por um escritor misterioso
Last updated 15 março 2025

The Niemann-Pick Diseases page discusses the genetics and clinical features of these related lysosomal storage diseases.

Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease - eBioMedicine

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study – topic of research paper in Clinical medicine. Download

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling - ScienceDirect

Niemann-Pick Disease - Pediatrics - Medbullets Step 2/3

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases

Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders - Papandreou - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library

Medicowesome: Niemann-Pick disease notes and mnemonic

Niemann Pick Disease - an overview

The pathogenesis of Niemann–Pick type C disease: a role for autophagy?, Expert Reviews in Molecular Medicine

IJMS, Free Full-Text

Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease - eBioMedicine
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