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Tag: "lysosomal" at medical news

Multiple organ disease cured by genes

...is one of a group of rare genetic disorders called lysosomal storage diseases. Other examples include Tay Sachs...yme. The therapy could also be used to treat other lysosomal storage diseases....

Progressive Genetic Diseases Can Be Detected By A Simple Blood Test

...uild up. Blood tests are available for cases where lysosomal diseases are suspected. But doctors are keen to find a way to diagnose the disorders before problems begin so that treatment, if it exists for the specific condition, can start early. 'Once you get damage, there is no way back,' say Turecek. 'E...

Idursulfase Is Effective Treatment for Hunter Syndrome

...and the medical treatment of children with genetic lysosomal storage diseases such as Hunter syndrome. In his laboratory at UNC, Muenzer created a mouse model for Hunter syndrome that was used in earlier research that demonstrated the potential effectiveness of Elaprase. Hunter syndrome, known more formall...

Drugs Activating PXR May Help In Treating Niemann-Pick type C disease

...PC belongs to a broader class of diseases known as lysosomal storage disorders, which affect more than 30,000 people worldwide. In these disorders, disposal and recycling units within cells known as lysosomes become jammed, preventing proper degradation of certain compounds and leading them to build up to dang...

Stem cell trial to beat Batten Disease

...ells that start producing the missing or defective lysosomal enzyme that causes the disease, as was the case in animal studies, " he said. "Children eligible for the study have clinical symptoms of one of two types of NCL -- infantile or late infantile NCL -- and loss-of-function mutations in either the CLN1...

Stem Cells Hold Promise for Treating Neurodegenerative Diseases

...cts 1 in 5000 patients, typically children (called lysosomal storage diseases, described in more detail below),...ffected by a disease that falls into a category of lysosomal storage diseases. Currently there is no treatment for Sandhoff or Tay-Sachs. Given that the human ...

New DNA Tests Advances Treatment of Lysosomal Storage Diseases

...s using gene sequencing is able to help confirm 24 lysosomal storage diseases, providing physicians and patient...ensive list of sequencing tests in the country for lysosomal storage diseases, according to Vanessa Rangel Miller, MS, CGC. "Before the availability of our tes...

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