Niemann-Pick disease A or B in four pediatric patients and SMPD1
Por um escritor misterioso
Last updated 19 março 2025


Lipid trafficking defects in Niemann-Pick type C disease

Niemann-Pick Disease, Types A and B

Niemann-Pick Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

A proposed model for the pathogenesis of Niemann-Pick disease type

JCM, Free Full-Text

IJMS, Free Full-Text

Niemann Pick Disease - Rivin

From genes to hope

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease, Orphanet Journal of Rare Diseases

Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A Case Report and Review of Literature

Recommendations for the detection and diagnosis of Niemann-Pick disease type C

IJNS, Free Full-Text

PDF) Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease
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