Casaniemann pick disease

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

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Last updated 22 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
IJMS, Free Full-Text
Niemann-Pick disease A or B in four pediatric patients and SMPD1
10: Types A and B Niemann–Pick Disease
Niemann-Pick disease A or B in four pediatric patients and SMPD1
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
Niemann-Pick disease A or B in four pediatric patients and SMPD1
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
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
Niemann-Pick disease A or B in four pediatric patients and SMPD1
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 A or B in four pediatric patients and SMPD1
IJMS, Free Full-Text
Niemann-Pick disease A or B in four pediatric patients and SMPD1
IJMS, Free Full-Text
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
Niemann-Pick disease A or B in four pediatric patients and SMPD1
PDF) Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician
Niemann-Pick disease A or B in four pediatric patients and SMPD1
What Is Niemann-Pick Disease?
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Proposed diagnostic algorithm for patients with suspected Niemann-Pick
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