Diagnostic and predictive methods for a Niemann-Pick disease type
Por um escritor misterioso
Last updated 23 dezembro 2024
(PDF) A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial - The Lancet
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
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