GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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Medical University of Vienna
Viena, AustriaPublicacións en colaboración con investigadores/as de Medical University of Vienna (8)
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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Galactokinase deficiency: lessons from the GalNet registry
Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210
2019
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Newborn screening for homocystinurias: Recent recommendations versus current practice
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139
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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
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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
2010
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The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)
Molecular Genetics and Metabolism, Vol. 100, Núm. 1, pp. 42-45