Niemann-Pick disease A or B in four pediatric patients and SMPD1
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Proposed diagnostic algorithm for patients with suspected Niemann-Pick
Niemann-Pick Disease - Pediatrics - Medbullets Step 2/3
IJMS, Free Full-Text
JCM, Free Full-Text
Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
Confocal LASER endomicroscopy in Niemann–Pick disease type B
Niemann-Pick Disease, Types A and B
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B), Orphanet Journal of Rare Diseases
Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics
Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
PDF) R542X mutation in SMPD1 gene: Genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease
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
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
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
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