GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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Guy's Hospital
Londres, Reino UnidoPublicacións en colaboración con investigadores/as de Guy's Hospital (10)
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
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The natural history of classic galactosemia: Lessons from the GalNet registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106
2018
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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)
Journal of Inherited Metabolic Disease
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Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)
Journal of Inherited Metabolic Disease
2016
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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Journal of Inherited Metabolic Disease, Vol. 39, Núm. 5, pp. 661-672
2015
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (J Inherit Metab Dis, 10.1007/s10545-015-9839-3)
Journal of Inherited Metabolic Disease
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (J Inherit Metab Dis, 10.1007/s10545-015-9840-x)
Journal of Inherited Metabolic Disease
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1041-1057
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1059-1074