نتایج جستجو برای: mucopolysaccharidosis type
تعداد نتایج: 1343233 فیلتر نتایج به سال:
The mucopolysaccharidosis (MPS) type VI is a rare lysosomal storage disease presenting leukocyte inclusions (Alder-Reilly anomaly) and lymphocytes with metachromatic inclusion surrounded by clear spaces, Gasser cells. Currently, an enzyme replacement therapy (ERT) galsulfase used to treat MPS VI. This study evaluated 14 patients performed cell counts before after six months from the beginning o...
OBJECTIVE Mucopolysaccharidosis I (MPS I) is a progressive, debilitating, and life-threatening genetic disease, which, owing to the nonspecific nature of the early symptoms, is often unrecognized and associated with significant diagnostic delays. To improve early recognition leading to early diagnosis and initiation of treatment, we characterized the extent of airway-related symptoms and surger...
Mucopolysaccharidosis I (MPS I) is caused by deficient alpha-L-iduronidase (IDUA) activity and results in the accumulation of glycosaminoglycans and multisystemic disease. Gene therapy could program cells to secrete mannose 6-phosphate-modified IDUA, and enzyme in blood could be taken up by other cells. Neonatal retroviral vector (RV)-mediated gene therapy has been shown to reduce the manifesta...
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the hydrolase α-L-iduronidase. MPS characterized broad range disease manifestations. This includes devastating neurocognitive and bone manifestations short life expectancy in severely affected patients. Neurocognitive are typically limited more attenuated I, but patients may still suffer from severe som...
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