M. Estela Rubio-Gozalbo
Groningen University Medical Centre
41 papers found
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Galactose epimerase deficiency: lessons from the GalNet registry
Download from link.springer.comGalactokinase deficiency: lessons from the GalNet registry
Download from www.nature.comResearch activity and capability in the European reference network MetabERN.
Download from link.springer.comThe natural history of classic galactosemia: lessons from the GalNet registry
Download from link.springer.comArginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
Download from doi.orgIntrafamilial oocyte donation in classic galactosemia: ethical and societal aspects
Download from doi.orgAllelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
UploadImpaired fertility and motor function in a zebrafish model for classic galactosemia
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