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niemann pick disease

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 – topic of research paper in Biological sciences. Download scholarly article PDF and read
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
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
Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
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
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 - Rivin
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
What Is Niemann-Pick Disease?
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
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