Diagnostic and predictive methods for a Niemann-Pick disease type
Descrição
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update - ScienceDirect
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators, Orphanet Journal of Rare Diseases
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016
Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C
Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study – topic of research paper in Clinical medicine. Download
Frontiers Therapeutic Strategies For Tay-Sachs Disease
Spectrum of Movement Disorders in Niemann-Pick Disease Type C - Tremor and Other Hyperkinetic Movements
PDF) Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele - Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study, Orphanet Journal of Rare Diseases
Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement
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