Niemann-Pick disease A or B in four pediatric patients and SMPD1
Por um escritor misterioso
Last updated 22 dezembro 2024
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
IJNS, Free Full-Text
Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics
TAVI in Patient Suffering from Niemann–Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia
Proposed diagnostic algorithm for patients with suspected Niemann-Pick
Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis
Niemann-Pick Disease, Types A and B
IJMS, Free Full-Text
Niemann Pick Disease - Rivin
Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report, Journal of Medical Case Reports
What Is Niemann-Pick Disease?
Niemann–Pick disease - Wikipedia
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions - ScienceDirect
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