Niemann-Pick disease A or B in four pediatric patients and SMPD1
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Niemann Pick Disease Type A in an Infant: A Case Report
Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
PDF) For Peer Review Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B
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What Is 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
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
Niemann-Pick Disease - Pediatrics - Medbullets Step 2/3
Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics
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