Pediatría, Inmunología, Obstetricia y Ginecología, Nutrición y Bromatología, Psiquiatría e Historia de la Ciencia
Departamento
Hospitais da Universidade de Coimbra
Coímbra, PortugalPublicaciones en colaboración con investigadores/as de Hospitais da Universidade de Coimbra (4)
2021
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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2018
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Ibero-American consensus on low- and no-calorie sweeteners: Safety, nutritional aspects and benefits in food and beverages
Nutrients, Vol. 10, Núm. 7
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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
Haematologica, Vol. 103, Núm. 1, pp. 148-162
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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