Publicaciones en colaboración con investigadoras/es de Complexo Hospitalario Universitario de Santiago (26)

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. Treatment adherence in tyrosinemia type 1 patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2020

  1. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693

  2. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

2019

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

    European Journal of Pediatrics

  2. Betaine anhydrous in homocystinuria: Results from the RoCH registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2018

  1. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

  2. New CTSA mutation in early infantile galactosialidosis

    Pediatrics International

  3. Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening

    Medicine (United States), Vol. 97, Núm. 32

2017

  1. Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle

    Medicine (United States), Vol. 96, Núm. 27

2016

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

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

  2. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

2015

  1. Corrigendum to "Risk factors for developing mineral bone disease in phenylketonuric patients" [Mol. Genet. Metab. 108 (2013) 149-154]

    Molecular Genetics and Metabolism

  2. Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

    Molecular Genetics and Metabolism

  3. Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria

    Nephrology, Vol. 20, Núm. 8, pp. 576-579

  4. Micronutrient in hyperphenylalaninemia

    Data in Brief

  5. Phenylketonuria's impact on physical growth in a Spanish cohort

    Phenylalanine: Dietary Sources, Functions and Health Effects (Nova Science Publishers, Inc.), pp. 27-48

  6. Sanfilippo syndrome: Overall review

    Pediatrics International, Vol. 57, Núm. 3, pp. 331-338

  7. Utilidad de los marcadores de remodelado óseo en la detección de enfermedad mineral ósea en pacientes con fenilcetonuria

    Medicina Clinica, Vol. 144, Núm. 5, pp. 193-197

  8. Vitamin and mineral status in patients with hyperphenylalaninemia

    Molecular Genetics and Metabolism, Vol. 115, Núm. 4, pp. 145-150