Results 81 to 90 of about 2,978 (184)

Knee degenerative osteoarthritis secondary to ochronosis (case report)

Travmatologiâ i Ortopediâ Rossii, 2013
Alkaptonuria is rare disease with deficiency of homogentisate-1,2-dioxygenase enzyme, resulting in excess deposition of homogentisic acid in connective tissue. This deposition leads to ochronosis - brownish-black pigmentation of connective tissue.
V. V. Bliznyukov, A. N. Kovalenko, V. P. Rumakin   +2 more
doaj   +1 more source

Ochronosis

Indian Journal of Dermatology, 2000
Ochronosis is a rare disorder, which presents with distinct clinical and biochemical features. A fifty seven year old male presented with fracture femur, osteoarthritis, Osler’s sign, alkaptonuria and cutaneous ochronosis.
Srikumar G, Hameedultah A, Arunadevi R, Somasundaram V, Parijatham B O, Ilangovan G   +5 more
doaj  

Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations

Orthopedic Research and Reviews, 2023
Moh’d S Dawod,1 Mohammad N Alswerki,2 Asem J Darabah,1 Anas O Satari,1 Asaad O Alrwashdeh,3 Zaid N Alaqarbeh,3 Mohammed S Alisi2,4,5 1Mutah University, Faculty of Medicine, Al-karak, Jordan; 2Jordan University Hospital, Amman, Jordan; 3Al-Karak Hospital,
Dawod MS, Alswerki MN, Darabah AJ, Satari AO, Alrwashdeh AO, Alaqarbeh ZN, Alisi MS   +6 more
doaj  

Case Report - Early detection of alkaptonuria

, 2005
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like darkening of urine, ochronosis and arthropathy.
Shyam B. Verma
core   +1 more source

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.
Salar, Arnav, Arora, Dyuksha, MAMADAPUR, MAHABALESHWAR   +2 more
core   +1 more source

Ochronotic Heart Disease: A Case Report of Aortic Valve Replacement and Coronary Artery Bypass Grafting in a Patient with Alkaptonuria [PDF]

Journal of Cardio-Thoracic Medicine
Introduction: Alkaptonuria is an autosomal recessive genetic disorder that disrupts tyrosine metabolism, causing the buildup of homogentisic acid and its oxidized derivatives in tissues, including the heart, leading to potential health issues ...
Mahdi Kahrom, Masoomeh Tabari, Shiva Rezaeian Deloei, Elham Shaarbaf Eidgahi   +3 more
doaj   +1 more source

Alkaptonuria and ochronotic arthritis

, 1963
A report is presented on two cases of alkaptonuria in which characteristic radiological changes were found. © 1963 E. & S.
Phocas, E., Andriotakis, C., Kaklamanis, Ph., Matsas, B.   +3 more
core  

Age-related deviation of gait from normality in alkaptonuria

, 2015
Alkaptonuria is a rare metabolic disease leading to systemic changes including early and severe arthropathy which affects mobility. For unknown reasons, the onset of degenerative changes is delayed to around 30 years of age when both objective and ...
Ranganath, Lakshminarayan R., Robinson, Mark A., Mark A. Robinson, Barton, Gabor J., Lakshminarayan R. Ranganath, King, Stephanie L., Gabor J. Barton, Stephanie L. King, Hawken, Malcolm B., Malcolm B. Hawken   +9 more
core   +1 more source

Alkaptonuria: A case report

, 2017
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations
GSatyanarayana Reddy, Hymavathi Bommisetti, Nirupama Damarla, Mallika Goyal, SanjayReddy Tadisina, G Satyanarayana Reddy, Sanjay Reddy Tadisina, Prathima Linga   +7 more
core   +1 more source

Age related deviation of gait from normality in alkaptonuria. [PDF]

Alkaptonuria is a rare metabolic disease leading to systemic changes including early and severe arthropathy which affects mobility. Due to unknown reasons, the onset of degenerative changes is delayed to around 30 years of age when both objective and ...
Barton, GJ, Hawken, MB, Robinson, MA, King, SL, Ranganath, LR   +4 more
core   +3 more sources