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Cardiovascular Pathology, 2020
In this review, we summarize previously reported case reports (n=66) in which the presence of ochronotic pigment was found in one or more cardiovascular structures either at necropsy or after operative excision of a cardiac valve or portions of arteries or both.
Nuvaira Ather, William C. Roberts
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In this review, we summarize previously reported case reports (n=66) in which the presence of ochronotic pigment was found in one or more cardiovascular structures either at necropsy or after operative excision of a cardiac valve or portions of arteries or both.
Nuvaira Ather, William C. Roberts
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Clinical and Experimental Dermatology, 2009
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of the enzyme homogentisic acid oxidase. The disease results in the accumulation and deposition of homogentisic acid in the cartilage, eyelids, forehead, cheeks, axillae, genital region, buccal mucosa, larynx, tympanic ...
E, Turgay +5 more
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Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of the enzyme homogentisic acid oxidase. The disease results in the accumulation and deposition of homogentisic acid in the cartilage, eyelids, forehead, cheeks, axillae, genital region, buccal mucosa, larynx, tympanic ...
E, Turgay +5 more
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European Heart Journal, 1995
We report the case of a 72-year-old female with alkaptonuric ochronosis and symptomatic aortic stenosis requiring aortic valve replacement. She was the seventh of nine children, and four of the nine siblings were diagnosed as having ochronosis. Only one, however presented with aortic stenosis.
R, Cortina +4 more
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We report the case of a 72-year-old female with alkaptonuric ochronosis and symptomatic aortic stenosis requiring aortic valve replacement. She was the seventh of nine children, and four of the nine siblings were diagnosed as having ochronosis. Only one, however presented with aortic stenosis.
R, Cortina +4 more
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Urology, 2017
Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in urolithiasis. Excretion of excessive homogentisic acid in urine causes dark-
Onkar, Singh +2 more
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Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in urolithiasis. Excretion of excessive homogentisic acid in urine causes dark-
Onkar, Singh +2 more
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Orthopedics, 2014
Alkaptonuria, with its sequel, ochronosis, is a rare disease, with an incidence of 1:125,000 to 1:1 million worldwide. Reported cases of ochronotic arthropathy and other orthopedic manifestations are mostly limited to a single family tree, and few cases have been reported.
Mukand, Lal +2 more
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Alkaptonuria, with its sequel, ochronosis, is a rare disease, with an incidence of 1:125,000 to 1:1 million worldwide. Reported cases of ochronotic arthropathy and other orthopedic manifestations are mostly limited to a single family tree, and few cases have been reported.
Mukand, Lal +2 more
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Localized exogenous ochronosis
Journal of the American Academy of Dermatology, 1983A 58-year-old black woman with localized exogenous ochronosis due to the use of a proprietary hydroquinone bleaching cream is described. Histologic studies, including electron microscopy, are presented. The differential diagnosis of blue-black hyperpigmentation is discussed. The literature on ochronosis, both endogenous (alkaptonuria) and exogenous, is
D, Cullison, D C, Abele, J L, O'Quinn
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Archives of Internal Medicine, 1929
Up to the present time there have been few reports in the English literature on the subject of ochronosis. The term ochronosis (Greek, pale yellow) was applied by Virchow,1in 1866, to the pigmentation of cartilages and cartilage-like tissues found at autopsy in a man, aged 67, who died of an aneurysm of the ascending aorta.
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Up to the present time there have been few reports in the English literature on the subject of ochronosis. The term ochronosis (Greek, pale yellow) was applied by Virchow,1in 1866, to the pigmentation of cartilages and cartilage-like tissues found at autopsy in a man, aged 67, who died of an aneurysm of the ascending aorta.
openaire +1 more source