Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a ph Read more about Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a ph
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I. Read more about Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
OP511 Financing of germline testing: implications for availability and access. Read more about OP511 Financing of germline testing: implications for availability and access.
eP317 Genomic sequencing results disclosure in diverse and underserved populations: themes, challenges and strategies from the CSER Consortium. Read more about eP317 Genomic sequencing results disclosure in diverse and underserved populations: themes, challenges and strategies from the CSER Consortium.
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Read more about Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. Read more about UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. Read more about Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Read more about Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples. Read more about Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. Read more about Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
