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Family history of ochronotic arthropathy
Rheumatology International, 2020Alkaptonuria is a rare autosomal-recessive disorder that produces accumulation of homogentisic acid in body fluids. The accumulation in collagen tissues, mainly in the joint cartilage, produces ochronotic arthropathy. We report two clinical cases of one brother and sister with alkaptonuria and ochronotic arthropathy diagnosed in old age.
Cristina Hidalgo Calleja +1 more
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Rheumatology International, 2002
Ochronotic arthropathy is the musculoskeletal manifestation of alkaptonuria. an uncommon inherited metabolic disorder associated with various clinical and radiologic abnormalities due to the deposition of homogentisic acid. We report on a 35-year-old man with ochronotic arthropathy who presented with the main characteristic radiological findings.
Pinar Borman, Hatice Bodur
exaly +3 more sources
Ochronotic arthropathy is the musculoskeletal manifestation of alkaptonuria. an uncommon inherited metabolic disorder associated with various clinical and radiologic abnormalities due to the deposition of homogentisic acid. We report on a 35-year-old man with ochronotic arthropathy who presented with the main characteristic radiological findings.
Pinar Borman, Hatice Bodur
exaly +3 more sources
Two Cases of Ochronotic Arthropathy
HIP International, 1992Phenylketonuria is a congenital inborn error of metabolism of phenylalanine hydroxylase. Characteristic arthrosis called ochronotic arthropathy is localized at main joints. The Authors present two cases of ochronotic arthropathy. Clinical and radiological features are described.
A. Andreacchio +2 more
exaly +2 more sources
Ochronotic arthropathy. I. Clinicopathologic studies
Seminars in Arthritis and Rheumatism, 1977H R Schumacher
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Scandinavian Journal of Rheumatology, 2003
The authors report on 18 members of four generations of an alkaptonuric family. All three males in the third generation are clinically affected; two members of the family tree have undergone major joint surgery.
K, Toth +3 more
openaire +2 more sources
The authors report on 18 members of four generations of an alkaptonuric family. All three males in the third generation are clinically affected; two members of the family tree have undergone major joint surgery.
K, Toth +3 more
openaire +2 more sources
, 2015 Alkaptonuria, ochronosis, and ochronotic arthropathy
Seminars in Arthritis and Rheumatism, 2004To describe the clinical presentation and course of a relatively large group of Italian adult patients screened for mutation of the homogentisate dioxygenase gene causing alkaptonuria (AKU) and ochronosis, and to review typical and atypical facets of this condition.We reviewed the medical records of 9 patients affected by ochronotic arthropathy who ...
A. Mannoni +8 more
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Studies on the pathogenesis of ochronotic arthropathy
Arthritis & Rheumatism, 1961AbstractAnalysis of the anatomic findings in the knees of three patients with ochronosis suggests that the critical problem in the pathogenesis of the arthropathy is the affinity of cartilage for the pigment or its precursors. Electron microscopic and certain in vitro studies having a bearing on hypothetical alternatives are presented.
W M, O'BRIEN, W G, BANFIELD, L, SOKOLOFF
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Chiropractic care and ochronotic arthropathy
Journal of Manipulative and Physiological Therapeutics, 1999To discuss the case of a patient with ochronotic arthropathy whose symptoms were treated with chiropractic care. An emphasis is placed on this condition's radiographic features.A 59-year-old woman with pain in her low back, right knee, and left ankle sought chiropractic evaluation.
M A, Mestan, G L, Bustin, L A, Wagner
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Ochronosis: A Case of Severe Ochronotic Arthropathy
Clinical Rheumatology, 2002Ochronosis involves primarily the large cartilaginous joint surfaces, ribs, intervertebral discs, ear cartilage etc. We report on a 53-year-old woman with typical alkaptonuric ochronosis with dark urine, blue-black pigmentation of the auriculae and hands, focal brown hyperpigmentation of the sclera, spondylarthropathy and severe shoulder joint ...
K, Nas +5 more
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