Casaniemann pick disease

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

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Last updated 14 janeiro 2025
Niemann-Pick disease A or B in four pediatric patients and SMPD1
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
IJNS, Free Full-Text
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
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
Lipid trafficking defects in Niemann-Pick type C disease
Niemann-Pick disease A or B in four pediatric patients and SMPD1
Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis
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
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann-Pick disease A or B in four pediatric patients and SMPD1
JCM, Free Full-Text
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
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