Introduction: Alkaptonuria is an autosomal-recessive disorder affecting the metabolism of tyrosine and phenylalanine which results in accumulation of homogentisic acid in connective tissues.
Spas Kitov +5 more
doaj +1 more source
A Dark Turn in the OR: Incidental Discovery of Ochronosis during Trauma Surgery: A Case Report
Introduction: Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid (HGA) oxidase, leading to the accumulation of HGA. The polymerized oxidation products of HGA in connective tissues, a condition known as
Kumar Parth +5 more
doaj +1 more source
Plant secondary metabolites as a model for drug development [PDF]
Biljni sekundarni metaboliti su spojevi koji nisu nužni za rast i razvoj biljaka, ali im omogućavaju prilagodbu i preživljavanje u okolišu. Strukturna kompleksnost i raznolikost sekundarnih metabolita osigurala im je važnu ulogu u farmaceutskoj ...
Kufrin, Vida
core +2 more sources
Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report
Background Alkaptonuria is a rare congenital metabolic disorder characterized by homogentisic acid accumulation in body cartilage and connective tissues due to a deficient homogentisic acid dioxygenase enzyme.
Saeid Hosseini +5 more
doaj +1 more source
Морфогенетические аспекты биоминерализации на фоне доброкачественной нодулярной гиперплазии простаты [PDF]
Несмотря на значительную распостраненность патологических включений простаты их природа и значение в развитии патологии железы точно не установлены.
Danylchenko, Serhii Mykolaiovych +20 more
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Precocious Degenerative Arthropathy And Bluish Patches On Ears : Ochronosis And Alkaptonuria
Alkaptonuria is a rare, autosomal recessive disorder of phenylalanin/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase.
Mahajan Vikram K +2 more
doaj
Патоморфологічні особливості біомінералізації при захворюваннях передміхурової залози [PDF]
Серед структури захворюваності населення України четверте місце займаєпатологія сечо-статевої системи – 6,56%. Серед населення Сумської області у 2012 році показник первинної захворюваності складав 3334,63 на 100 тисяч осіб, а поширеності 8861,35 на 100 ...
Piddubnyi, Artem Mykhailovych +2 more
core
Alkaptonuria: An example of a "fundamental disease"-A rare disease with important lessons for more common disorders [PDF]
Dillon, Jane P +4 more
core +1 more source
Ochronosis ,The Rare Cause of Chronic Low Back Pain: Report of A Case
Background and Importance: Alkaptonuria is a rare genetic disorder due to deficiency of the enzyme homogentisic acid Oxidase which results in the accumulation of homogentisic acid in various body tissues; it produces a multisystemic disorder with a ...
Ali Baradaran Bagheri +4 more
doaj
Alkaptonuria Presenting with Back Pain: A Diagnostic Dilemma [PDF]
Alkaptonuria is a rare inborn error of metabolism due to a deficiency of homogentisate 1,2 dioxygenase, resulting in homogentisic acid accumulation in tissues. It is characterised by homogentisic aciduria, ochronosis, and arthritis.
Arora, Dyuksha +2 more
core +2 more sources

