Galactosemia historical perspective: Difference between revisions
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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. | 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,<ref>Goppert F. ''Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden.'' Klin Wschr 1917;54:473-477.</ref> with its cause as a defect in galactose metabolism being identified by a group led by[[Herman Kalckar]] in 1956.<ref>{{cite journal |author=Isselbacher KJ, Anderson EP, Kurahashi K, Kalckar HM |title=Congenital galactosemia, a single enzymatic block in galactose metabolism |journal=Science |volume=13 |issue=123 |pages=635-6 |year=1956 |pmid=13311516}}</ref> | |||
==Historical Perspective== | ==Historical Perspective== | ||
Revision as of 05:36, 19 January 2014
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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.