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Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.
Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
P206: Continued clinical improvements in adults with acid sphingomyelinase deficiency after 3-5 Years of olipudase alfa treatment: Final ASCEND trial results.
3-hour genome sequencing and targeted analysis to rapidly assess genetic risk.
Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.