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
What Is Niemann-Pick Disease? - StoryMD
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
IJMS, Free Full-Text
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
Niemann–Pick disease - Wikipedia
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
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
Acid Sphingomyelinase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Niemann-Pick disease A or B in four pediatric patients and SMPD1
The mutations in the SMPD1 gene of Iranian patients with types A and B
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick disease type C
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
A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review
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
PDF) Niemann- Pick disease type B. Study of three cases and literature revision
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