Niemann-Pick Diseases - The Medical Biochemistry Page
Por um escritor misterioso
Last updated 27 março 2025

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

Niemann-Pick Disease, Types A and B

Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals - Top Articles selected by the Editor - Molecular Genetics and Metabolism Reports - Journal - Elsevier
Niemann Pick Disease Type C - Symptoms, Causes, Treatment

PDF) The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

IJMS, Free Full-Text

Niemann-Pick disease: Causes, symptoms, treatment, and more

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

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

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

Niemann-Pick disease type C: Video & Anatomy

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.

What is the Difference Between Niemann-Pick Disease and Gaucher's Disease
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