Niemann-Pick disease A or B in four pediatric patients and SMPD1
Por um escritor misterioso
Descrição
Niemann Pick Disease - Rivin
Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders
Niemann Pick Disease Type C - Symptoms, Causes, Treatment
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 - Wikipedia
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
Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B
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 - an overview
10: Types A and B 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
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