Niemann-Pick Diseases - The Medical Biochemistry Page
Por um escritor misterioso
Last updated 21 fevereiro 2025
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The Niemann-Pick Diseases page discusses the genetics and clinical features of these related lysosomal storage diseases.
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Niemann-Pick Disease, Types A and B
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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
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PDF) The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes
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IJMS, Free Full-Text
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Niemann-Pick disease: Causes, symptoms, treatment, and more
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Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling - ScienceDirect
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The pathogenesis of Niemann–Pick type C disease: a role for autophagy?, Expert Reviews in Molecular Medicine
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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases
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Niemann-Pick disease type C: Video & Anatomy
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Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016
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Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
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What is the Difference Between Niemann-Pick Disease and Gaucher's Disease
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