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Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

BACKGROUND: Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype. With current biomarkers, it is not possible to predict clinical outcome early in life. The aim of this study was to develop...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6109347/
https://ncbi.nlm.nih.gov/pubmed/30143026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0888-1
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