Galactosemia with Cataracts
- 5 May 1955
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 252 (18) , 747-752
- https://doi.org/10.1056/nejm195505052521802
Abstract
GALACTOSEMIA, an inborn error in the metabolism of ingested galactose, is today a well established clinical entity. The earliest reports were those of Reuss1 in 1908, Göppert2 in 1917 and Fanconi3 in 1933. The first report in the American literature was by Mason and Turner4 in 1935. Over the past ten years probably less than 30 cases have been recorded, but it seems reasonable to suppose that many others have not been reported and still others have gone unrecognized.The characteristic clinical manifestations of this congenital metabolic defect are early nutritional failure, physical and mental retardation, hepatomegaly, splenomegaly, osteoporosis and . . .Keywords
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