cutis laxa/tyrosine

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GreinarKlínískar rannsóknirEinkaleyfi

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Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

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Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper

Serum-induced vascular smooth muscle cell elastolytic activity through tyrosine kinase intracellular signalling.

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In previous studies, we related increased elastolytic activity in pulmonary arteries (PA) with endothelial injury to the later development of PA hypertension in rats. As the mechanism causing the increased PA elastase was unknown, we hypothesized that serum factors which are accessible to vascular

[Finnish amyloid polyneuropathy in a French patient].

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BACKGROUND Finnish amyloid variety is a rare familial amiloidosis polyneuropathy essentially observed in Finland. It concerns about six hundred people in the world in which five hundred reside in Finland. METHODS We report a case of a 58-year-old French woman with a 10-year history of lattice cornea

Inhibition of VEGF (Vascular Endothelial Growth Factor)-A or its Receptor Activity Suppresses Experimental Aneurysm Progression in the Aortic Elastase Infusion Model.

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We examined the pathogenic significance of VEGF (vascular endothelial growth factor)-A in experimental abdominal aortic aneurysms (AAAs) and the translational value of pharmacological VEGF-A or its receptor inhibition in aneurysm suppression. Approaches and Results: AAAs were created

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Herbal & Natural Medicine

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