Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

• প্রধান লেখক: Sebile Kılavuz (লেখক), Fatma Derya Bulut (লেখক), Deniz Kör (লেখক), Berna Şeker Yılmaz (লেখক), Sibel Başaran (লেখক), Tunay Sarpel (লেখক), Neslihan Önenli Mungan (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Aim:Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts homogentisic acid (HGA) into maleylacetoacetic acid in the tyrosine degradation pathway. The presence of HGA in urine, ochronosis (bluish-black pigmentat...