Publications in collaboration with researchers from Hospital Universitario Marqués de Valdecilla (40)

2024

  1. Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR)

    Annals of Hematology

2023

  1. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  2. Autosomal dominant polycystic kidney disease in young adults

    Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995

  3. Characteristics and management of patients with SARS-CoV2 infection admitted to pediatric intensive care units: Data analysis of the Spanish national multicenter registry

    Pediatric Pulmonology, Vol. 58, Núm. 10, pp. 2916-2929

  4. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

2022

  1. Correlation of Anti-Tissue Transglutaminase Antibodies With the Mucosal Changes and IgA Status of Children With Celiac Disease

    Journal of pediatric gastroenterology and nutrition, Vol. 75, Núm. 6, pp. 743-748

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. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142

  3. Treatment adherence in tyrosinemia type 1 patients

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

2020

  1. A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units

    Intensive Care Medicine

  2. Evaluation of the impact of the Spanish consensus document on the approach to osteoarticular infections in Spain through the Paediatrics Osteoarticular Infections Network (RIOPED)

    Anales de Pediatria, Vol. 93, Núm. 5, pp. 289-296

  3. Implementation of an affordable method for MPS diagnosis from urine screening to enzymatic confirmation: Results of a pilot study in Morocco

    Clinical Laboratory, Vol. 66, Núm. 3, pp. 391-399

  4. Severe manifestations of SARS-CoV-2 in children and adolescents: from COVID-19 pneumonia to multisystem inflammatory syndrome: a multicentre study in pediatric intensive care units in Spain

    Critical care (London, England), Vol. 24, Núm. 1, pp. 666

2019

  1. ECLIM-SEHOP, a new platform to set up and develop international academic clinical trials for childhood cancer and blood disorders in Spain

    Clinical and Translational Oncology, Vol. 21, Núm. 12, pp. 1763-1770

  2. Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study

    Pediatric Pulmonology, Vol. 54, Núm. 6, pp. 837-846

  3. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  4. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2018

  1. 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

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

  2. Consenso para el abordaje del asma grave pediátrica en la práctica clínica habitual

    Anales de Pediatria, Vol. 84, Núm. 2, pp. 122e1-122e11