Publications in collaboration with researchers from Hospital Vall d'Hebron (6)

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  2. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414

2019

  1. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

  2. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798

2011

  1. Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome

    Pediatrics International, Vol. 53, Núm. 6, pp. 985-989

2010

  1. Recommendations and management of type i hereditary or hepatorenal tyrosinemia

    Anales de Pediatria, Vol. 73, Núm. 5