نتایج جستجو برای: alkaptonuria

تعداد نتایج: 375  

2015
Vaibhav G. Patel

Alkaptonuria is disorder of tyrosine metabolism due to deficiency of homogentisic oxidase characterized by excretion of homogentisic acid in urine, deposition of oxidized homogensitate pigments in connective tissues and articular cartilages (ochronosis). The result is dark pigmentation and weakening of the tissues resulting in chronic inflammation and osteoarthritis. Management of alkaptonuric ...

Journal: :Eklem hastaliklari ve cerrahisi = Joint diseases & related surgery 2013
Ramadan Ozmanevra Ortaç Güran Vasfi Karatosun Izge Günal

Alkaptonuria is an autosomal recessive disorder caused by the deficiency of homogentisate 1.2 dioxygenase activity. The clinical presentation shows an ochronotic pigment which is deposited in all connective tissues, including in cartilage, particularly. The knee is the most common site of peripheral abnormality. There is currently no definitive cure for alkaptonuric ochronosis. In this article,...

Journal: :JPMA. The Journal of the Pakistan Medical Association 1998
R Ahmed S S Hussain J Rees

Petrification of the auricle is a recognized and distinct pathological entity. This involves ossificationorcalcification of the auricular cartilage resulting in hardening of the auricle which is clinically evident on palpation and can be confirmed through radiological imaging. The aetiology of this unusual phenomenon is varied and includes both local and systemic causes. Systemic conditions ass...

Journal: :Journal of Inherited Metabolic Disease 2015

Journal: :Indian Journal of Dermatology, Venereology and Leprology 2020

Journal: :Saudi Journal of Kidney Diseases and Transplantation 2018

Journal: :Korean Journal of Pediatrics 2006

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