Sofía
Barbosa Gouveia
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Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (4)
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
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
2017
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Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Journal of Human Genetics, Vol. 62, Núm. 2, pp. 185-189