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Biomedical subjects

S Srsen

Publications and source records attributed to S Srsen.

At least 55 records · Page 3Linked to original sources
PubMed1979

Diagnosis of alkaptonuria in children.

Thirty-nine patiens with alkaptonuria diagnosed in childhood were studied with repeated detailed clinical and biochemical examinations. Darkening of the urine, although varying from time to time, was present in all. Pigmentary changes in axillary regions began to appear at 8--10 years with concomitant staining of underwear. Ear cartilage staining occurred in only 1, and none had scleral involvement or anthropathy. Dark brown to black staining of ear cerumen is present even in earliest childhood. This distinctive symptom in a child with no other ochronotic manifestations and even normal urine colour should alert one to possible alkaptonnuria. Other findings are described in detail.

Adolescent↗
PubMed1979

Alkaptonuria.

Alkaptonuria is found relatively frequently in Slovakia, Eastern Czechoslovakia (1 in 25,000 inhabitants). Reported herein are the clinical, radiographic, and biochemical aspects and genetics of 126 patients with alkaptonuria. Forty-seven were diagnosed in childhood; the sequential appearance of each manifestation is documented by decade. A simple screening method for this disorder is described. Pedigree analyses confirm recessive inheritance. Possible genetic and sociologic factors responsible for this high frequency of alkaptonuria are discussed.

Adolescent↗