Diagnostic and predictive methods for a Niemann-Pick disease type

Niemann-Pick Disease Type C

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts

Screening and identifying hepatobiliary diseases through deep learning using ocular images: a prospective, multicentre study - The Lancet Digital Health

Niemann-Pick disease type C – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.

Development of a bile acid–based newborn screen for Niemann-Pick disease type C

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B), Orphanet Journal of Rare Diseases

Niemann-Pick Disease Concise Medical Knowledge

Niemann-Pick disease type C

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Genes, Free Full-Text

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update - ScienceDirect