Raredr

Lysosomal Storage Disorders

1 Year Data Testing Kanuma Efficacy and Safety in LAL Deficiency
Two studies looking at the long-term use of Kanuma (sebelipase alfa) in patients with LAL deficiency were presented at the NLA Scientific Sessions in Philadelphia.
Project Alive debuted a documentary series to recognize MPS. Each episode will provide a glimpse into the lives of families dealing with Hunter syndrome.
Karen was not diagnosed with Pompe disease until she was 46 years old, even though she had the symptoms of the rare disease for at least 15 years prior.
David Hamlin describes the 12 hour day for his son receiving enzyme replacement therapy (ERT) every 2 weeks to manage his Pompe disease.
Laura Case of Duke University Medical reminds persons with neuromuscular disorders that there are technologies available to assist in leading a full life.
During Duke's annual late-onset Pompe disease patient clinic, Carla Green talks about some of the physical therapy used to maintain muscle strength in patients.
At the late-onset Pompe disease patient clinic recently held at Duke University, we talked with Karen Kacures about her condition and how it is managed in the two states she lives in - Minnesota and Texas.
BioMarin received a Rare Pediatric Disease Priority Review Voucher which they can use on ANY future drug or sell it to another company.
It was 18 months before Rachel Foster was finally referred to Duke University where Dr Priya Kishnani diagnosed her with late-onset Pompe disease.
Brineura (cerliponase alfa) is an enzyme replacement therapy that in just a few short years has shown itself to be an effective treatment for children with CLN2 disease.
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