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In addition, prenatal diagnosis of lysosomal storage disease can be made by analysis of glycolipids and oligosaccharides in the amniotic fluid using a method called "electrospray ion tandem mass spectrometry" (14).
This provides a real opportunity to deliver enzyme therapy without surgically entering the brain to treat lysosomal storage diseases," Nature quoted lead investigator Beverly Davidson as saying.
Concentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseases.
Our collaboration with GSK reflects our belief in the need to effectively address neurological symptoms of lysosomal storage diseases.
MPS I is a lysosomal storage disease in which people do not make an enzyme called lysosomal alpha-L-iduronidase (IDUA).
Mucopolysaccharidosis (MPS) IVA (MPS IVA, also known as Morbus Morquio A) is a rare lysosomal storage disease characterized by a gene mutation that causes a lack or deficient activity of the N-acetylgalactosamine-6- sulfatase (GALNS) enzyme.
Hunter syndrome is a rare, genetic lysosomal storage disease caused by a deficient or absent enzyme, iduronate-2-sulfatase.
In addition, we will be using our lysosomal storage disease drug-targeting platform to create additional enzyme replacement therapies for rare and ultra-rare diseases.
For many people with rare illnesses such as lysosomal storage disease, hemophilia, Guillain-Barre syndrome, and Alpha-1-antitrypsin deficiency disease, specialty pharmaceuticals represent their standard of care, keeping symptoms stable and helping to reclaim quality of life.
4, 2013 /PRNewswire-USNewswire/ -- Researchers have overcome a major challenge to treating brain diseases by engineering an experimental molecular therapy that crosses the blood-brain barrier to reverse neurological lysosomal storage disease in mice.
McDonough also served as Senior Vice President and General Manager, Personalized Genetic Health, and Senior Vice President, Lysosomal Storage Disease (LSD) Therapeutics.
In lysosomal storage diseases that affect other organs such as liver or muscle, doctors treat patients with repeated infusions of the missing enzyme into blood vessels, but infusion into vessels will not work when brain tissue is involved, as in Batten disease.

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