Diagnostic and predictive methods for a Niemann-Pick disease type
Por um escritor misterioso
Last updated 11 março 2025


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

PDF) Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism

Metabolites, Free Full-Text

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

Genes, Free Full-Text

Niemann-Pick disease type C

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Niemann-Pick disease type C

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

PDF) Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

Frontiers Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

Niemann–Pick Disease Type C
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