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Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID).
Two-tiered universal newborn screening strategy for severe combined immunodeficiency.
1Alpha,25-dihydroxy-3-epi-vitamin D3, a natural metabolite of 1alpha,25-dihydroxy vitamin D3: production and biological activity studies in pulmonary alveolar type II cells.