Results 91 to 100 of about 2,978 (184)

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

Acute Anterior Uveitis as the Initial Presentation of Alkaptonuria

, 2009
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system involvement such as ochronotic arthropathy, renal, urethral and prostatic calculi, cardiac valvular lesions and pigmentation of the skin, sclera, cartilage ...
David, S., Padhan, P., John, S.S., Mathews, J.V.   +3 more
core   +1 more source

Alkaptonuria

, 2017
Alkaptonuria is a rare metabolic autosomal recessive disorder. It occurs due to lack of an enzyme that results in deposition of homogentisic acid in various tissues. A male patient of 45 years presented with back pain for 20 years and multiple joint pain
Sirajul Islam, SM Kamal, Sk Amir Hossain, Md Nazrul Islam   +3 more
core   +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  

Diagnosis of Alkaptonuria [PDF]

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

Alkaptonuria [PDF]

, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop   +3 more
  +5 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  

Lumbar spinal stenosis associated with alkaptonuria: Case report

Alkaptonuria is a rare autosomal recessive metabolic disorder caused by a deficiency of the homogentisic acid oxidase enzyme. In this disease, degenerative changes occur in the intervertebral discs and connective tissue due to pigment accumulation.
Ertuğrul, Bilal, Yıldırım, Tahir, Kaplan, Metin, Çalık, Muhammet   +3 more
core   +1 more source

When two rare diseases meet: atypical hemolytic uremic syndrome and alkaptonuria in two siblings. [PDF]

CEN Case Rep
Karaca C, Karatas B, Tunc R, Erdem M, Dincer MT, Mirioglu S.   +5 more
europepmc   +1 more source

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