Diagnostic and predictive methods for a Niemann-Pick disease type
Por um escritor misterioso
Last updated 01 junho 2024
JCM, Free Full-Text
Niemann–Pick Disease Type C
Cells, Free Full-Text
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
Genes, Free Full-Text
Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement
(PDF) A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review
mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts
Metabolites, Free Full-Text
IJMS, Free Full-Text
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B), Orphanet Journal of Rare Diseases
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