Results 71 to 80 of about 1,633 (163)

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

Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report

Journal 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, Soheila Salari, Mohammad Javad Alemzadeh Ansari, Mahshid Hesami, Sepideh Banar, Mohammad Amin Shojaei   +5 more
doaj   +1 more source

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

Indian 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, Sharma Nand Lal, Yadav Ravi S   +2 more
doaj  

Alkaptonuria.

Indian journal of dermatology, venereology and leprology, 2007
A case of alkaptonuria, a rare autosomal recessive metabolic disorder is being reported. The patient presented with passage of dark coloured urine, cutaneous and scleral pigmentation and joint pains. The diagnosis was confirmed by the detection of homogentisic acid in the urine.
A, Dogra, G S, Bajwa, N, Bajwa, S, Khurana   +3 more
openaire   +1 more source

Diagnosis of Alkaptonuria [PDF]

BMJ, 1943
J N, Gould, T G, Thomas
openaire   +2 more sources

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

Iranian 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, Farsad Biglari, Somayeh Soroureddin, Salman Azarsina, Mohammad Kamangar   +4 more
doaj  

Alkaptonuria [PDF]

, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop   +3 more
openaire   +2 more sources

Total Knee Arthroplasty in Alkaptonuric Patient With Ochronotic Arthropathy. [PDF]

J Am Acad Orthop Surg Glob Res Rev
Michalak P, Buchcic P, Drobniewski M, Borowski A.   +3 more
europepmc   +1 more source

Intraoperative Diagnosis of Ochronotic Arthropathy With Unexpected Medial Collateral Ligament Laxity Managed During Total Knee Arthroplasty. [PDF]

Cureus
Sah S, Bhavani P, Shahare P, Priyanshu, Das D.   +4 more
europepmc   +1 more source

Alkaptonuria and Cervical Disc Herniation: Case Report. [PDF]

Int J Spine Surg
Sampaio Júnior FAU, Alves OL, Ribeiro FRB, Quidute BSQ, Ferreira RJR, Lira Filho HT, Ramiro KRB, Santos MMD, Rodrigues MS, Santos LSRD, Silva AIK, Sampaio LMQ.   +11 more
europepmc   +1 more source