GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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Maastricht University
Maastricht, HolandaPublicacións en colaboración con investigadores/as de Maastricht University (5)
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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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
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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