نتایج جستجو برای: maroteaux
تعداد نتایج: 191 فیلتر نتایج به سال:
Pulmonary arterial hypertension (PAH) is a progressive and fatal disease, which involves pulmonary vasoconstriction and cardiovascular remodeling. Our present study shows that treatment with rosiglitazone, the peroxisome proliferator-activated receptor γ (PPARγ) agonist is able to attenuate 5-hydroxytryptamine (5-HT)-induced vasoconstriction of pulmonary arteries from monocrotalineor hypoxia-tr...
Cases of metaphysial dysplasia have been recorded by Pyle (1931), Bakwin and Krida (1937) and Hermel, Gershon-Cohen and Jones (1953). Jansen (1934) described a form of metaphysial dysplasia which he termed metaphysial dysostosis. Similar cases were reported by Cameron, Young and Sissons (1954), Lenk (1956), Maroteaux and Lamy (1960), Evans and Caffey (1958), and Gram, Fleming, Frame and Fine (1...
Background Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disorder determined by mutations in the arylsulfatase B gene located in chromosome 5. Pathogenic mutations of this gene result in reduced or absent activity of enzyme arylsulfatase B (N-acetylgalactosamine 4-sulfatase, ARSB). Incomplete degradation and cellular accumulation of glyco...
Henri de Toulouse-Lautrec (1864-1901) was initially thought to have had osteogenesis imperfecta. However, following the description of pycnodysostosis as a new genetic skeletal dysplasia, Maroteaux and Lamy concluded that this was Toulouse-Lautrecs affliction (Figure1). He, in fact, presented all the clinical features suggestive of this diagnosis, in addition to parental consanguinity. Toulous...
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