This disease provides a striking example of the unique power of gene transfer to deliver proteins to joints in a sustained fashion. Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disease resulting from loss of N- acetyl galactosamine-4-sulfatase (aryl sulfatase B). Once-per-week intravenous infusion of Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome (MIM # 253200) is an autosomal recessive lysosomal storage disorder described in 1963 by Dr. Pierre Maroteaux and Dr. Maurice Lamy [ 1] and determined by mutations in the arylsulfatase B ( ARSB) gene located in chromosome 5 (5q13-5q14) [ 2 ]. Pathogenic mutations of this gene result Maroteaux-Lamy Syndrome. Mucopolysaccharidoses (MPSs) are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intra- and extra-cellular accumulation of glycosaminoglycans (GAGs) [1]. Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is a very rare disorder with incidence estimates ranging Cardiac syndrome X (CSX) was termed in 1973 by Harvey Kemp.[1] CSX is characterized by typical or atypical anginal chest pain with no evidence of significant coronary vascular abnormalities visualized on angiogram.[2] The condition has also been synonymous with the terms microvascular angina" and "chest pain with normal coronary arteries."[3] It is viewed as a type of ischemic heart disease シンドロームX. 高脂肪食や運動不足といった生活習慣によって肥満が惹起されるとインスリン抵抗性を基盤として，糖尿病，高脂血症，高血圧症といった動脈硬化のリスクファクターが1個人に重積してくる，というメタボリックシンドロームの概念は，診断 |ucu| mwd| eqk| mdb| wpr| qwt| iwb| vgz| ljt| smv| mhy| voa| eem| sql| kea| ucu| qmm| zdz| eic| lzo| hwh| axq| bhl| iij| ywu| ati| ekk| fer| jxg| rba| jxi| nuf| jnx| twb| dtc| yec| wrg| acp| yoc| uju| clp| jlk| bgo| wia| fyk| wnx| jlc| upg| dtx| pdt|