GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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University of Amsterdam
Ámsterdam, HolandaPublicacións en colaboración con investigadores/as de University of Amsterdam (6)
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
2013
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study
Pediatrics, Vol. 131, Núm. 6
2012
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Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes
Journal of Inherited Metabolic Disease, Vol. 35, Núm. 6, pp. 1037-1049
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Erratum: Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes (J Inherit Metab Dis DOI 10.1007/s10545-012-9477-y)
Journal of Inherited Metabolic Disease