Sofía
Barbosa Gouveia
Radboud University Nijmegen Medical Centre
Nimega, HolandaPublications in collaboration with researchers from Radboud University Nijmegen Medical Centre (3)
2021
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Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome
International Journal of Molecular Sciences, Vol. 22, Núm. 24
2019
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
2018
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease