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
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
A proposed model for the pathogenesis of Niemann-Pick disease type
Niemann-Pick disease A or B in four pediatric patients and SMPD1
PDF) Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Cureus, Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome
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
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
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
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
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
Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders
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