Medicina interna
Servicio
Universidade de Lisboa
Lisboa, PortugalPublicaciones en colaboración con investigadores/as de Universidade de Lisboa (4)
2023
2022
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Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant
Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250
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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Molecular Genetics and Metabolism, Vol. 137, Núm. 1-2, pp. 114-126
2020
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Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica
Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 40, Núm. 10, pp. 2508-2515