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Biomedical subjects

N Akman

Publications and source records attributed to N Akman.

At least 19 recordsLinked to original sources

Heterogenous glycogen storage disease in one family.

Three brothers, aged 17, 14 and 4 ye presented. Deficiency of glucose-6-phosphatase was associated with deficiency of acid maltase in one and debranching enzyme in the other. Enzyme analyses could not be performed in the youngest sibling.

Adolescent

Polycythemia vera associated with Ushers's symdrome.

A 50-year-old man with Usher's syndrome, progressive retinitis pigmentosa, and congenital sensoneural deafness developed polycythemia vera. Usher's syndrome was associated with a variety of congenital herediatry disorders but there was no evidence to support more than a chance association between Usher's syndrome and polycythemia vera.

Adolescent