Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (39)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  2. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

  3. Immunogenicity of a third dose with mRNA-vaccines in the ChAdOx1-S/BNT162b2 vaccination regimen against SARS-CoV-2 variants

    iScience, Vol. 27, Núm. 9

  4. Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study

    European Journal of Endocrinology, Vol. 190, Núm. 6, pp. 421-433

2023

  1. Autosomal dominant polycystic kidney disease in young adults

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

  2. Characteristics of Pediatric Emergency Department Presentations of Anaphylaxis in Spain

    Pediatric Emergency Care, Vol. 39, Núm. 10, pp. 755-759

  3. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. Initial clinical and treatment patterns of advanced differentiated thyroid cancer: ERUDIT study

    European Thyroid Journal, Vol. 11, Núm. 5

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Craniopharyngioma in the Elderly: A Multicenter and Nationwide Study in Spain

    Neuroendocrinology, Vol. 111, Núm. 10, pp. 925-936

  3. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3045-3055

  4. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  5. Leigh syndrome associated with TRMU gene mutations

    Molecular Genetics and Metabolism Reports, Vol. 26

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

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

2020

  1. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

  2. Risk Factors for Severe Anaphylaxis in Children

    Journal of Pediatrics, Vol. 225, pp. 193-197.e5

2019

  1. Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

    Frontiers in Immunology, Vol. 10

  2. Management of anaphylaxis in Spain: Pediatric emergency care providers' knowledge

    European Journal of Emergency Medicine, Vol. 26, Núm. 3, pp. 163-167

  3. 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

  4. Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia

    Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086