نتایج جستجو برای: mucopolysaccharidosis type i
تعداد نتایج: 2218703 فیلتر نتایج به سال:
Haskins, M. E., Aguirre, G. D., Jezyk, P. F., Schuchman, E. H., Desnick, R. J., & Patterson, D. F. (1983). Animal model of human disease: Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. American Journal of Pathology, 138(6), 1553–1555. PMCID: PMC1886403 Reproduced from Am J Pathol 1991, 138 (6): 1553–1555 with permission from the Ame...
UNLABELLED Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic cou...
Mucopolysaccharidoses (MPS) are a family of genetic diseases associated with deficiency alpha-L iduronidase, which causes lack catabolism glycosaminoglycans (GAGs). Therefore, the accumulation GAGs determines wide spectrum symptoms, typically found in few syndromes like Hurler syndrome (HS). Among other specific manifestations, craniofacial abnormalities crucial for characterization this syndro...
ムコ多糖症は身体中に存在するムコ多糖が沈着する遺伝疾患であり，VII型は中でもまれな疾患である．過去の全身麻酔導入時に換気困難があったムコ多糖症VII型患児に対する全身麻酔を経験した．症例は7歳男児．2歳6カ月時に挿管直後に呼気性喘鳴と換気困難のため手術中止となった．今回の麻酔導入には拮抗可能な薬剤を用いて鎮静下で喉頭展開容易であることを確認することで安全に気道確保を行った．術中，術後ともに問題なく経過し退院した．一般的にムコ多糖症は麻酔管理上，気道確保が問題とされるが病型に依る．本症例では問題なく気道確保できたが，VII型はまれな疾患であり症例報告は少なく麻酔管理に関する経験の蓄積が必要である．
Aims Morquio syndrome is a mucopolysaccharidosis (type 4) that has autosomal recessive inheritance. Moreover, it is caused by defects in the two genes; GALNS (Murcio A) and GLB1 (Murcio B). The prevalence rate of this condition is estimated to be about 1 per 200000 live births globally. Besides, Middle Eastern cases shape the greatest ratio, due to higher rates of consanguineous marriages. The ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید