Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Without intervention, classic galactosemia is a potentially fatal disorder in infancy. With the benefit of early diagnosis and dietary restriction of galactose, the acute sequelae of classic galactosemia can be prevented or reversed. However, despite early and lifelong dietary treatment, many galact...

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Huvudupphovsmän: Jumbo-Lucioni, Patricia P., Garber, Kathryn, Kiel, John, Baric, Ivo, Berry, Gerard T., Bosch, Annet, Burlina, Alberto, Chiesa, Ana, Pico, Maria Luz Couce, Estrada, Sylvia C., Henderson, Howard, Leslie, Nancy, Longo, Nicola, Morris, Andrew A. M., Ramirez-Farias, Carlett, Schweitzer-Krantz, Susanne, Silao, Catherine Lynn T., Vela-Amieva, Marcela, Waisbren, Susan, Fridovich-Keil, Judith L.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2012
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3774053/
https://ncbi.nlm.nih.gov/pubmed/22450714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-012-9477-y
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