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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Auteurs principaux:	Sebile Kılavuz, Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Sibel Başaran, Tunay Sarpel, Neslihan Önenli Mungan
Format:	Artigo
Langue:	Inglês
Publié:	Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2018-03-01
Collection:	Journal of Pediatric Research
Sujets:	Alkaptonuria ochronosis homogentisic acid homogentisate 1 2 dioxygenate arthritis
Accès en ligne:	http://jpedres.org/archives/archive-detail/article-preview/demographic-phenotypic-and-genotypic-features-of-a/18743
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