Casa niemann pick tipo c

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine

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Last updated 30 março 2025

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine

Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. - Abstract - Europe PMC

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities - Gustavo H.B. Maegawa, 2019

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations, Hereditas

Niemann-Pick disease type C

Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease - eBioMedicine

Frontiers npc2-Deficient Zebrafish Reproduce Neurological and Inflammatory Symptoms of Niemann-Pick Type C Disease

A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS

PDF) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Full article: The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders

IJNS, Free Full-Text

Identification of Niemann–Pick type C disease in the group of ataxias of unclear origin in adults - Klyushnikov - Annals of Clinical and Experimental Neurology

Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain

IJNS, Free Full-Text

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