Casaniemann pick disease

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

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Last updated 16 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
PDF) Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease
Niemann-Pick disease A or B in four pediatric patients and SMPD1
From genes to hope
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions - ScienceDirect
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 - Rivin
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Acid Sphingomyelinase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
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
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