In 2015, the United States approved Kanuma (sebelipase alfa) for the treatment of infants living with rare lysosomal acid lipase deficiency. However, the therapy was not approved in other countries;…
Enzyme replacement therapy (ERT) has been explored as a potential therapeutic option for mucopolysaccharidosis type III A (MPS III-A or Sanfilippo syndrome type A). However, these solutions have not…
Enzyme replacement therapy (ERT) is an approved treatment strategy for those with Pompe disease. It involves providing patients with alpha-glucosidase, which helps to break down glycogen. In addition to reducing…
One of the burdens that rare disease patients often face falls into the financial category, and that's treatments that come at a very high cost. One patient, a young girl…
In 1964, Henri Hers was studying Pompe disease when he suggested that the absence of lysosomal enzymes could be responsible for several other conditions. He was right, and a category of…
Keenan Cahill is a YouTube sensation who just happens to have Maroteaux-Lamy syndrome. Although, after watching his channel for a half hour, he isn't letting it hold him back from…
Gaucher disease occurs when the body doesn't produce the enzyme beta-glucocerebrosidase, which is needed to break down fats, or lipids. As a result, fatty deposits collect in the spleen and liver,…
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