Diagnostic and predictive methods for a Niemann-Pick disease type
Por um escritor misterioso
Descrição
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review, Orphanet Journal of Rare Diseases
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update - ScienceDirect
Niemann-Pick Disease, A Pipeline Analysis Report 2018, Technavio
Niemann Pick disease
Niemann-Pick disease type C symptomatology: an expert-based clinical description, Orphanet Journal of Rare Diseases
Frontiers Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective
PDF) The Niemann-Pick Disease Type C Suspicion Index: Development of a New Tool to Aid Diagnosis
Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement
Genetic and laboratory diagnostic approach in Niemann Pick disease type C
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts
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