Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (17)

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

  3. Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

    Nutrients, Vol. 16, Núm. 3

  4. Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders

    International Journal of Pharmaceutics, Vol. 657

2023

  1. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

2022

  1. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

2021

  1. Evaluation of body composition, physical activity, and food intake in patients with inborn errors of intermediary metabolism

    Nutrients, Vol. 13, Núm. 6

  2. Screen Time and Bone Status in Children and Adolescents: A Systematic Review

    Frontiers in Pediatrics, Vol. 9

2020

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

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

  2. Clinical utility of lct genotyping in children with suspected functional gastrointestinal disorder

    Nutrients, Vol. 12, Núm. 10, pp. 1-16

2019

  1. Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients

    International Journal of Pharmaceutics, Vol. 567

2017

  1. Similarities between acylcarnitine profiles in large for gestational age newborns and obesity

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

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

2011

  1. Relevance of expanded neonatal screening of medium-chain Acyl Co-A dehydrogenase deficiency: Outcome of a decade in Galicia (Spain)

    Journal of Inherited Metabolic Disease, Vol. 1, pp. 131-136

2010

  1. Meningitis neonatal por enterovirus. Experiencia de un caso y revisión del tema

    Revista Espanola de Pediatria, Vol. 66, Núm. 6, pp. 373-377

2002

  1. Demonstration of apoptosis in human skin injuries as an indicator of vital reaction

    International Journal of Legal Medicine, Vol. 116, Núm. 2, pp. 109-112