Pediatría
Departamento
Hospital Universitario Marqués de Valdecilla
Santander, EspañaPublicaciones en colaboración con investigadoras/es de Hospital Universitario Marqués de Valdecilla (38)
2023
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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
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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
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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
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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
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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
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Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis
Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142
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Treatment adherence in tyrosinemia type 1 patients
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
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A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units
Intensive Care Medicine
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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
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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
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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
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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
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Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study
Pediatric Pulmonology, Vol. 54, Núm. 6, pp. 837-846
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2018
2016
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Clinical and genetic characterization of congenital hyperinsulinism in Spain
European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726
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Consenso para el abordaje del asma grave pediátrica en la práctica clínica habitual
Anales de Pediatria, Vol. 84, Núm. 2, pp. 122e1-122e11
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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
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Targeted next generation sequencing in patients with inborn errors of metabolism
PLoS ONE, Vol. 11, Núm. 5