Galactosemia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
Overview
Von Ruess in a 1908 publication entitled Sugar Excretion In Infancy reported on a breast fed infant with hepatomegaly and spleen enlargement, failure to thrive and galactosuria.
And Goppert first described the disease in 1917,[1] with its cause as a defect in galactose metabolism being identified by a group led byHerman Kalckar in 1956.[2]
Historical Perspective
References
- ↑ Goppert F. Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden. Klin Wschr 1917;54:473-477.
- ↑ Isselbacher KJ, Anderson EP, Kurahashi K, Kalckar HM (1956). "Congenital galactosemia, a single enzymatic block in galactose metabolism". Science. 13 (123): 635–6. PMID 13311516.