Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Hymavathi Bommisetti"'
Autor:
Nirupama Damarla, Prathima Linga, Mallika Goyal, Sanjay Reddy Tadisina, G Satyanarayana Reddy, Hymavathi Bommisetti
Publikováno v:
Indian Journal of Ophthalmology, Vol 65, Iss 6, Pp 518-521 (2017)
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestat
Externí odkaz:
https://doaj.org/article/2401e7bad6364b9c9ec17a2d9bf6fef7
