نتایج جستجو برای: ochronosis
تعداد نتایج: 209 فیلتر نتایج به سال:
Alkaptonuria (AKU) is an orphan inherited homogentisate dioxygenase enzyme deficiency resulting in accumulation of homogentisic acid (HGA). HGA is converted to a black pigment polymer known as ochronosis that causes tissue damage affecting many tissues including joints and heart, with significant poor quality of life. The DevelopAKUre project is a Europe-wide collaboration to study the efficacy...
Exogenous ochronosis is an infrequent dermatosis characterized as a dark blue hyperpigmentation localized where the causing agent was applied. It may be caused by the use of systemic medication such as antimalarials and by the use of topic substances such as phenol, resorcinol, benzene, or hydroquinone, which is a fenolic compound with depigmentation action, largely used in the treatment of mel...
background: alkaptonuria (aku) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (hgd). the features include arthritis of the spine and in larger peripheral joints, with chondrocalcinosis. in this paper, we present a case of alkaptonuria in a 54 year old woman in tehran, iran. case presentation: a 54 year old woman ...
F Abbasi [1] , Ph.D S Naji [2] , Ph.D F Mirzatolui [3] , MD G Behjati [4] , Ph.D Received: 28 April, 2008 Accepted: 5 Nov, 2008 Abstract Alkaptonuria is a rare autosomal recessive disorder characterized by deficiency of homogentisic acid oxidase. This deficiency leads to accumulation of homogentisic acid in tissues and its urinary excretion and resulting in characteristic features like o...
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