Results 91 to 100 of about 2,793 (181)
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 +2 more
doaj
Urine Darkening Disease: Alkaptonuria
, 2010 Giriş: Alkaptonüri, tirozin metabolizmasıyla ilgili, karaciğerde bulunan bir enzim olan, homogentisat 1-2 dioksigenazın eksikliği sonucunda ortaya çıkan bir hastalıktır. Eksikliğin sebebi homogentisik asit oksidaz geninde değişiklik (mutasyon) olmasıdır.
Aslan, Eyüp, Yavuz, Haluk
core
Alkaptonuria- a rare metabolic disorder
, 2016 A 26-year-old male presented with bluish discoloration of both pinnae and history of arthritis for the last few months. Examination showed bluish pigmentation of both pinnae, rest of the examination was unremarkable.
Sohail Aslam +2 more
core +1 more source
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 +4 more
doaj
A Rare Metabolic Genetic Disease - Alkaptonuria
, 2023 Alkaptonuria (AKU) is a rare autosomal disease disrupting the breakdown of tyrosine due to a mutation on the homogentisate 1,2-dioxygenase enzyme (HGD) causing an accretion of homogentisic acid (HGA) in the body.
Conrad, A\u27lanne, MSPAS, PA-C
core
Study of alkaptonuria in residences of Divlag village [PDF]
Background and Objective: Alkaptonuria is a lifelong disease with no known treatment. Since some cases of this rare disease were diagnosed in Divlag village and due to autosomal recessive hereditation of the disease, social factors such as marriage with ...
جعفرزاده, فرزانه +2 more
core
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 +3 more
openaire +1 more source
Total Knee Arthroplasty in Alkaptonuric Patient With Ochronotic Arthropathy. [PDF]
J Am Acad Orthop Surg Glob Res RevMichalak P +3 more
europepmc +1 more source
Ochronotic arthropathy mimicking degenerative osteoarthritis in an older adult with alkaptonuria: diagnostic and perioperative lessons from a case report. [PDF]
Front Med (Lausanne)Zhang YM, Chen JX, Wan L, Ye F.
europepmc +1 more source