نتایج جستجو برای: mucopolysaccharidosis type
تعداد نتایج: 1343233 فیلتر نتایج به سال:
1. a-L-Iduronidase activity was assayed by incubation of iduronosyl anhydro[ l-3H]mannitol 6-sulphate with homogenates of cultured skin fibroblasts, amniotic cells and leucocytes derived from normal individuals, patients affected with GLiduronidase deficiency disorder (mucopolysaccharidosis type I: Hurler, Scheie and Hurler-Scheie compound) and parents of such patients. 2. The assay for cc-L-id...
BACKGROUND Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting clinical research in this area. We seek to make recommendations on the approach to clinical research in MPS III, including the selection of ou...
Severe progressive neurological paediatric disease mucopolysaccharidosis III type C is caused by mutations in the HGSNAT gene leading to deficiency of acetyl-CoA: α-glucosaminide N-acetyltransferase involved in the lysosomal catabolism of heparan sulphate. To understand the pathophysiology of the disease we generated a mouse model of mucopolysaccharidosis III type C by germline inactivation of ...
We here describe a videolaryngoscope assisted fibreoptic tracheal intubation in a 17-year-old patient with Hunter Syndrome (Mucopolysaccharidosis Type II) and known difficult intubation who required posterior cervical fusion surgery for cervical canal stenosis. The patient had a history of failed nasal and oral fibreoptic intubation. The use of a videolaryngoscope enabled continuous visualizati...
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