title: [Clinical aspects of alkaptonuria].
abstract: The research laboratory of clinical genetics in Martin has initiated an extensive study on alkaptonuria since 1968. The incidence of that disease among the newborn in Slovakia is 1:21,500 and 140 patients have so far been recorded (136 in Slovakia and 13 from Moravia frontier regions). Though the incidence and clinical manifestation of alkaptonuria differ in the separate cases, the progress of the disease is associated with the age of the patient. Of particular significance for the clinical diagnosis of alkaptonuria is not only the knowledge of the clinical manifestations in general but also the clinical picture among the various age groups. Our experiment is presented in the paper from that point of view.
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000474:Alkaptonuria / Q000175:diagnosis* / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003604:Czechoslovakia; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged
vernacular_title: Klinichni aspekti na alkaptonuriiata.