Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
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High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
PDF) The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS
JCM, Free Full-Text
Full article: Psychiatric and neurological symptoms in patients with Niemann -Pick disease type C (NP-C): Findings from the International NPC Registry
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
A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS
Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases
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