Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Departamento
Queen Fabiola Children's University Hospital
Bruselas, BélgicaPublicacións en colaboración con investigadores/as de Queen Fabiola Children's University Hospital (5)
2019
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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
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