Niemann-Pick disease A or B in four pediatric patients and SMPD1
Por um escritor misterioso
Last updated 25 abril 2025


Morbidity and mortality in type B Niemann–Pick disease

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

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann Pick Disease Type C - Symptoms, Causes, Treatment

Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and B - Irun - 2013 - Clinical Genetics - Wiley Online Library

Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis

Niemann-Pick Disease - Types, Causes, Symptoms, Diagnosis & Treatment

PDF) A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene

Niemann-Pick disease type C

Niemann–Pick disease - Wikipedia

IJMS, Free Full-Text
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