Diagnostic and predictive methods for a Niemann-Pick disease type
Por um escritor misterioso
Last updated 21 janeiro 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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