Galactosemia: A Tale of Two Pathways—A brief overview of the galactose metabolic pathway
Автор: Galactosemia Together
Загружено: 2021-04-08
Просмотров: 30401
Описание: Galactosemia is a rare, potentially life-threatening, genetic disorder in which patients are unable to break down the sugar galactose (2,3). This video provides an overview of Galactosemia, including sources of galactose, the metabolic pathways involved, and the role of toxic galactitol in patients with Classic Galactosemia. Learn more at http://www.galactosemia.com and join us on Facebook at: / galactosemiatogether REFERENCES: 1. Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I. Sweet and sour: an update on classic galactosemia. J Inherit Metab Dis. 2017;40:325-342. doi:10.1007/s10545-017-0029-3 2. Forges T, et al. Pathophysiology of impaired ovarian function in galactosemia. Human Reprod. 2006;12(5):573-584. 3. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. In: Adam MP, Ardinger HH, Pagon RA, et al. eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; February 4, 2000.
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