Casaniemann pick disease

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

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Last updated 23 setembro 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
Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation - ScienceDirect
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
Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics
Niemann-Pick disease A or B in four pediatric patients and SMPD1
TAVI in Patient Suffering from Niemann–Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
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
What Is Niemann-Pick Disease? - StoryMD
Niemann-Pick disease A or B in four pediatric patients and SMPD1
PDF) R542X mutation in SMPD1 gene: Genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick disease type C, 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
From genes to hope
Niemann-Pick disease A or B in four pediatric patients and SMPD1
PDF) Niemann-Pick type A disease with new mutation: a case report
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
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
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
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