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A late and difficult diagnosis of ochronosis

Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. This causes the classic clinical triad: (1) homogentisic aciduria (urine blackens on standing when oxidize...

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Detalles Bibliográficos
Autores principales: Groseanu, L, Marinescu, R, Laptoiun, D, Botezatu, I, Staniceanu, F, Zurac, S, Ionescu, R
Formato: Texto
Lenguaje:English
Publicado: Carol Davila University Press 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3019075/
https://www.ncbi.nlm.nih.gov/pubmed/21254745