10 research outputs found
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
Get PDFSafety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naive and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
No full textImproved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested
No full textCommonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
No full textCorrection: <em>GATAD2B</em>-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
No full textRanking of non-coding pathogenic variants and putative essential regions of the human genome
No full textSplice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease
No full textImpact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders
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