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pro vyhledávání: '"Irina M. Ciomaga"'
Publikováno v:
Romanian Journal of Pediatrics, Vol 64, Iss 3, Pp 293-296 (2015)
Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme defi ciency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is establi
Externí odkaz:
https://doaj.org/article/dc798be9fa014397b2045edf1eba7c85
Publikováno v:
Romanian Journal of Pediatrics, Vol 64, Iss 3, Pp 350-352 (2015)
Boala Gaucher este cea mai frecventă maladie lizozomală, cu transmitere autosomal recesivă. Boala se datorează defi citului enzimei glucocerebrozidază, rezultând în acumularea de glucocerebrozide în toate organele. Diagnosticul se stabileş
Externí odkaz:
https://doaj.org/article/ae8875cd80124d58a79ec69d3da1beba