Publicacións en colaboración con investigadores/as de Hospital de São João (72)

2023

  1. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 6, pp. 1170-1185

2021

  1. Effectiveness of third-class biologic treatment in crohn’s disease: A multi-center retrospective cohort study

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

2020

  1. Ibero-latinamerican clinical practical guidelines on pediatric caustic esophagitis: Physiopathology and clinical-endoscopic diagnosis (1st part)

    Revista Chilena de Pediatria, Vol. 91, Núm. 1, pp. 149-157

  2. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

  3. Pitfalls in Challenging Thyroid Tumors: Emphasis on Differential Diagnosis and Ancillary Biomarkers

    Endocrine Pathology, Vol. 31, Núm. 3, pp. 197-217

  4. Tumors of the thyroid gland. Proposal for the management and study of samples from patients with thyroid neoplasms

    Revista Espanola de Patologia, Vol. 53, Núm. 1, pp. 27-36

2019

  1. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

  2. Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

    Mitochondrion, Vol. 47, pp. 309-317

  3. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106

2018

  1. Addition of granulocyte/monocyte apheresis to oral prednisone for steroid-dependent ulcerative colitis: A Randomized multicentre clinical trial

    Journal of Crohn's and Colitis, Vol. 12, Núm. 6, pp. 687-694

  2. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)

    Journal of Inherited Metabolic Disease

  3. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)

    Journal of Inherited Metabolic Disease

  4. Cribriform-morular variant of thyroid carcinoma: a neoplasm with distinctive phenotype associated with the activation of the WNT/β-catenin pathway

    Modern Pathology, Vol. 31, Núm. 8, pp. 1168-1179

  5. Evaluation of a clinical pharmacogenetics model to predict methotrexate response in patients with rheumatoid arthritis

    Pharmacogenomics Journal, Vol. 18, Núm. 4, pp. 539-545

  6. New WHO classification of thyroid tumors: a pragmatic categorization of thyroid gland neoplasms

    Endocrinologia, Diabetes y Nutricion, Vol. 65, Núm. 3, pp. 133-135

  7. Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis

    Scientific Reports, Vol. 8, Núm. 1

2017

  1. A Global Declaration on Appropriate Use of Antimicrobial Agents across the Surgical Pathway

    Surgical Infections, Vol. 18, Núm. 8, pp. 846-853

  2. EWSR1 rearrangement is a frequent event in papillary thyroid carcinoma and in carcinoma of the thyroid with Ewing family tumor elements (CEFTE)

    Virchows Archiv, Vol. 470, Núm. 5, pp. 517-525

  3. Erratum: Antimicrobials: A global alliance for optimizing their rational use in intra-abdominal infections (AGORA). [World J Emerg Surg. 11, (2016) (33)] DOI: 10.1186/s13017-016-0089-y

    World Journal of Emergency Surgery

  4. Hobnail variant of papillary thyroid carcinoma: Clinicopathologic and molecular evidence of progression to undifferentiated carcinoma in 2 cases

    American Journal of Surgical Pathology, Vol. 41, Núm. 6, pp. 854-860