Grupo de Investigación de Endocrinología, Diabetes, Nutrición, alteraciones Renales y Salud Infantil - GIC 21/144
Hospital Universitario 12 de Octubre
Madrid, EspañaHospital Universitario 12 de Octubre-ko ikertzaileekin lankidetzan egindako argitalpenak (28)
2023
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Characteristics of Pediatric Emergency Department Presentations of Anaphylaxis in Spain
Pediatric Emergency Care, Vol. 39, Núm. 10, pp. 755-759
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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
2022
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Initial clinical and treatment patterns of advanced differentiated thyroid cancer: ERUDIT study
European Thyroid Journal, Vol. 11, Núm. 5
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2020
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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8
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Hypophosphataemic Rickets: Similar Phenotype of Different Diseases
Advances in Therapy, Vol. 37, pp. 80-88
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Risk Factors for Severe Anaphylaxis in Children
Journal of Pediatrics, Vol. 225, pp. 193-197.e5
2019
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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Management of anaphylaxis in Spain: Pediatric emergency care providers' knowledge
European Journal of Emergency Medicine, Vol. 26, Núm. 3, pp. 163-167
2018
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
2017
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International variability in gastrointestinal decontamination with acute poisonings
Pediatrics, Vol. 140, Núm. 2
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The p.R56* mutation in PTHLH causes variable brachydactyly type E
American Journal of Medical Genetics, Part A
2015
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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385
2014
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Accuracy of a sequential approach to identify young febrile infants at low risk for invasive bacterial infection
Emergency Medicine Journal, Vol. 31, Núm. e1, pp. e19-e24
2013
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Changes in acromegaly treatment over four decades in Spain: Analysis of the Spanish Acromegaly Registry (REA)
Pituitary, Vol. 16, Núm. 1, pp. 115-121
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Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene
Journal of Pediatric Genetics, Vol. 2, Núm. 3, pp. 133-140
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Increasing incidence of pediatric inflammatory bowel disease in Spain (1996-2009): The SPIRIT registry
Inflammatory Bowel Diseases, Vol. 19, Núm. 1, pp. 73-80
2012
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Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review
Clinical Dysmorphology, Vol. 21, Núm. 3, pp. 172-176
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6