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

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

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...

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Main Authors: Sebile Kılavuz (Author), Fatma Derya Bulut (Author), Deniz Kör (Author), Berna Şeker Yılmaz (Author), Sibel Başaran (Author), Tunay Sarpel (Author), Neslihan Önenli Mungan (Author)
Format: Book
Published: Galenos Yayinevi, 2018-03-01T00:00:00Z.
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3rd Floor Main Library

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