Niemann-Pick disease A or B in four pediatric patients and SMPD1
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Niemann-Pick Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and B - Irun - 2013 - Clinical Genetics - Wiley Online Library
Morbidity and mortality in type B Niemann–Pick disease
From genes to hope
Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease - Ranganath - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
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 Type C - Symptoms, Causes, Treatment
Niemann Pick Disease - an overview
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
Proposed diagnostic algorithm for patients with suspected Niemann-Pick
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
TAVI in Patient Suffering from Niemann–Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia
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