Centro de Investigación Biomédica en Red sobre Enfermedades Raras -ko ikertzaileekin lankidetzan egindako argitalpenak (6)

2020

  1. Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia

    Mitochondrion, Vol. 55, pp. 78-84

2019

  1. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 3, pp. 407-413

  2. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911

2017

  1. Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management

    Medicina Clinica, Vol. 148, Núm. 9, pp. 429.e1-429.e10

2016

  1. Limited beneficial effects of piceatannol supplementation on obesity complications in the obese Zucker rat: gut microbiota, metabolic, endocrine, and cardiac aspects

    Journal of Physiology and Biochemistry, Vol. 72, Núm. 3, pp. 567-582

2009

  1. Secondary disorders of glycosylation in inborn errors of fructose metabolism

    Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1