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phosphoribosyltransferase deficiency
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publication
Unusual presentatïon of partial hypoxanthine phosphoribosyltransferase deficiency in a female patient
Publication without faculty affiliation
publication
Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis
2015 |
First Faculty of Medicine