Niemann-Pick disease A or B in four pediatric patients and SMPD1
Por um escritor misterioso
Last updated 04 janeiro 2025
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
Niemann–Pick disease - Wikipedia
Niemann-Pick Disease Concise Medical Knowledge
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review
IJMS, Free Full-Text
10: Types A and B Niemann–Pick Disease
Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics
Cureus, Niemann-Pick Disease: An Approach for Diagnosis in Adulthood
Niemann Pick Disease - Rivin
PDF) For Peer Review Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B
Sphingomyelinase Deficiency: Practice Essentials, Pathophysiology, Etiology
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
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