Results 131 to 140 of about 4,051 (207)

Transcatheter Aortic Valve Implantation in Alkaptonuria-Аssociated Severe Aortic Stenosis: A 2.5-Year Follow-Up Case Report and Literature Review

open access: yesLife
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

open access: yesJournal of Orthopaedic Case Reports
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]

open access: yes, 2018
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

open access: yesJournal of Cardiothoracic Surgery
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]

open access: yes, 2013
Несмотря на значительную распостраненность патологических включений простаты их природа и значение в развитии патологии железы точно не установлены.
Danylchenko, Serhii Mykolaiovych   +20 more
core  

Precocious Degenerative Arthropathy And Bluish Patches On Ears : Ochronosis And Alkaptonuria

open access: yesIndian Journal of Dermatology, 2004
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]

open access: yes, 2015
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]

open access: yes, 2016
Dillon, Jane P   +4 more
core   +1 more source

Ochronosis ,The Rare Cause of Chronic Low Back Pain: Report of A Case

open access: yesIranian Journal of Neurosurgery, 2019
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]

open access: yes
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

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