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Lysosomal Storage Disorders

Batten and Pompe are only two examples of rare lysosomal storage disorders. Consider Rare Disease Report when looking for more information about uncommon LSDs.
Project Alive Premiers Episode 2 in Hunter Syndrome Awareness Series
Project Alive, developed by the nonprofit Saving Case & Friends, Inc. (SC&F), premiered their second episode in an ongoing documentary series about MPS II.
By having all carriers of a monogenic rare disease undergo the IVF procedure to create children, that rare disease could be eradicated.
Simon was a 4 ft 8 in motivational speaker and a passionate crusader for the rare disease community.
Ollie, and his sister Amelia have Batten disease. Ollie's Army has helped the children meet Prince Harry and Ed Sheeran while also raising awareness of this rare disease.
Love Kennedy is about a young teenage girl named Kennedy Hansen, a Utah resident, who suddenly learns she has Batten disease.
A new study by Hughes et al indicates long-term use of Vimizim (elosulfase afla) in adults with Morquio A is effective and provides those patients with increased strength and endurance to tackle their daily activities.
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.
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