GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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University Hospital of Bern
Berna, SuizaPublicacións en colaboración con investigadores/as de University Hospital of Bern (7)
2024
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Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Frontiers in Genetics
2022
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Galactose epimerase deficiency: lessons from the GalNet registry
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331
2021
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A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 5, pp. 1124-1135
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Galactokinase deficiency: lessons from the GalNet registry
Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210
2019
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The natural history of classic galactosemia: Lessons from the GalNet registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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
2014
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1