Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)

2024

  1. CLINICAL SUSPICION AND INITIAL DIAGNOSTIC STUDIES IN INHERITED METABOLIC DISEASES

    BOLETIN DE PEDIATRIA, Vol. 64, Núm. 267, pp. 29-38

  2. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

    BMC Pediatrics, Vol. 24, Núm. 1

2023

  1. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 6, pp. 1170-1185

2020

  1. Bone status in patients with phenylketonuria: A systematic review

    Nutrients, Vol. 12, Núm. 7, pp. 1-15

2013

  1. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Regional experience and high incidence of carnitine deficiency

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1