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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Detalles Bibliográficos
Autores principales: van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109347/
https://www.ncbi.nlm.nih.gov/pubmed/30143026
http://dx.doi.org/10.1186/s13023-018-0888-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109347/
https://www.ncbi.nlm.nih.gov/pubmed/30143026
http://dx.doi.org/10.1186/s13023-018-0888-1

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