نتایج جستجو برای: ochronosis
تعداد نتایج: 209 فیلتر نتایج به سال:
Background: Alkaptonuria (AKU) is a rare hereditary metabolic disorder that occupies a unique position in the history of medical and biochemical genetics because it was the first human metabolic disorder to be interpreted as genetically determined. This condition is characterized by deficiency of HGAO, an enzyme that is mainly found in hepatocytes. The medical interest in alkaptonuria stems fro...
Purpose. To report clinical and in vivo confocal microscopy (IVCM) findings of two patients with ocular ochronosis secondary due to alkaptonuria. Materials and Methods. Complete ophthalmologic examinations, including IVCM (HRT II/Rostock Cornea Module, Heidelberg, Germany), anterior segment optical coherence tomography (AS-OCT) (Topcon 3D spectral-domain OCT 2000, Topcon Medical Systems, Paramu...
Alkaptonuria (AKU) is a rare genetic disease associated with the accumulation of homogentisic acid (HGA) and its oxidized/polymerized products which leads to the deposition of melanin-like pigments (ochronosis) in connective tissues. Although numerous case reports have described ochronosis in joints, little is known on the molecular mechanisms leading to such a phenomenon. For this reason, we c...
OBJECTIVES Alkaptonuria (AKU) is a genetic disorder caused by lack of the enzyme responsible for breaking down homogentisic acid (HGA), an intermediate in tyrosine metabolism. HGA is deposited as a polymer, termed ochronotic pigment, in collagenous tissues. Pigmentation is progressive over many years, leading to CTDs including severe arthropathies. To investigate the mechanism of pigmentation a...
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