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WebJul 27, 2024 · The fungus Taphrina communis causes plum pocket disease, which leads to curled, swollen, twisted or otherwise distorted leaves, fruit and shoots. The seeds of … WebNov 16, 2024 · Kohler disease is a rare bone disorder of the foot in children that may be the result of stress-related compression at a critical time during the period of growth. It is …
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Because Hurler syndrome is an autosomal recessive disorder, affected persons have two nonworking copies of the gene. A person born with one normal copy and one defective copy is called a carrier. They will produce less α-L-iduronidase than an individual with two normal copies of the gene. See more Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans See more Children with Hurler Syndrome carry two defective copies of the IDUA gene, which has been mapped to the 4p16.3 site on chromosome 4. This is the gene which encodes for the protein iduronidase. As of 2024 , more than 201 different mutations in the IDUA gene … See more Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme assays (testing a variety of cells or … See more Children with Hurler syndrome may appear normal at birth and develop symptoms over the first years of life. Symptoms vary between patients. One of the first abnormalities that may be detected is coarsening of the facial features; these … See more The IDUA gene is responsible for encoding an enzyme called alpha-L-iduronidase. Through hydrolysis, alpha-L-iduronidase is responsible for breaking down a molecule … See more There is currently no cure for Hurler Syndrome. Enzyme replacement therapy with iduronidase (Aldurazyme) may improve pulmonary function … See more A British study from 2008 found a median estimated life expectancy of 8.7 years for patients with Hurler syndrome. In comparison, the median life expectancy for all forms of MPS type I was 11.6 years. Patients who received successful bone marrow transplants … See more
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