Casaniemann pick disease

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

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Last updated 29 novembro 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
A proposed model for the pathogenesis of Niemann-Pick disease type
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
Niemann-Pick disease by
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
Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
Niemann-Pick disease A or B in four pediatric patients and SMPD1
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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
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Niemann-Pick disease A or B in four pediatric patients and SMPD1
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Niemann-Pick disease A or B in four pediatric patients and SMPD1
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