Casaniemann pick disease

Niemann-Pick disease A or B in four pediatric patients and SMPD1

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Last updated 13 julho 2024
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Niemann-Pick disease A or B in four pediatric patients and SMPD1
PDF) Niemann-Pick type A disease with new mutation: a case report
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, Orphanet Journal of Rare Diseases
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
Cureus, Niemann-Pick Disease: An Approach for Diagnosis in Adulthood
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and B - Irun - 2013 - Clinical Genetics - Wiley Online Library
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Morbidity and mortality in type B Niemann–Pick disease
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
Proposed diagnostic algorithm for patients with suspected Niemann-Pick
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
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