Casaniemann pick disease

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

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Last updated 03 junho 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
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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
PDF) A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
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
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B
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
Niemann Pick Disease Type A and Type B - causes, symptoms, diagnosis, treatment, pathology
Niemann-Pick disease A or B in four pediatric patients and SMPD1
PDF) Niemann- Pick disease type B. Study of three cases and literature revision
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
Niemann-Pick Disease, Types A and B
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann Pick Disease - Rivin
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Sphingomyelinase Deficiency: Practice Essentials, Pathophysiology, Etiology
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick disease type C
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