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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2018
Pynciau:
Research
Mynediad Ar-lein: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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