Casaniemann pick disease

Niemann-Pick disease A or B in four pediatric patients and SMPD1

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Last updated 19 dezembro 2024
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick Disease, Type C2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann-Pick disease A or B in four pediatric patients and SMPD1
From genes to hope
Niemann-Pick disease A or B in four pediatric patients and SMPD1
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick Disease
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and B - Irun - 2013 - Clinical Genetics - Wiley Online Library
Niemann-Pick disease A or B in four pediatric patients and SMPD1
PDF) Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management
Niemann-Pick disease A or B in four pediatric patients and SMPD1
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
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann-Pick disease A or B in four pediatric patients and SMPD1
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