Publicacións en colaboración con investigadores/as de Hospital Ramón y Cajal (35)

2024

  1. Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers

    Translational Research, Vol. 269, pp. 47-63

  2. Congestion as a crucial factor determining albuminuria in patients with cardiorenal disease

    Clinical Kidney Journal, Vol. 17, Núm. 6

  3. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

  4. Loop diuretic down-titration at discharge in patients hospitalized for acute heart failure

    ESC Heart Failure, Vol. 11, Núm. 3, pp. 1739-1747

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

  2. Prognostic significance of plasma chloride in elderly patients hospitalized for acute heart failure

    ESC Heart Failure, Vol. 10, Núm. 4, pp. 2637-2647

  3. Usefulness of urinary potassium to creatinine ratio to predict diuretic response in patients with acute heart failure and preserved ejection fraction

    Clinical Cardiology, Vol. 46, Núm. 8, pp. 906-913

2022

  1. Comparison of chlorthalidone and spironolactone as additional diuretic therapy in patients with acute heart failure and preserved ejection fraction

    European Heart Journal: Acute Cardiovascular Care, Vol. 11, Núm. 4, pp. 350-355

  2. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

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

  2. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

2020

  1. Spacing the Administration Interval of Anti-TNF Agents: A Valid Strategy for Patients with Inflammatory Bowel Disease?

    Digestive Diseases and Sciences, Vol. 65, Núm. 7, pp. 2036-2043

2019

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

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

  2. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

  3. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11

  4. Implicación del tratamiento de la diabetes gestacional en el aumento de peso materno y bajo peso neonatal: gran estudio de cohorte retrospectivo

    Nutricion hospitalaria, Vol. 36, Núm. 6, pp. 1261-1266

  5. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

    European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2016

  1. Adherencia de los Urgenciólogos al protocolo de Control Glucémico de la Herramienta GLIKAL

    Journal of Negative and No Positive Results: JONNPR, Vol. 1, Núm. 1, pp. 25-30

  2. Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study

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