Grupo de Investigación de Endocrinología, Diabetes, Nutrición, alteraciones Renales y Salud Infantil - GIC 21/144
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Hospital Vall d'Hebron
Barcelona, EspañaPublikationen in Zusammenarbeit mit Forschern von Hospital Vall d'Hebron (35)
2024
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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
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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
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Autosomal dominant polycystic kidney disease in young adults
Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995
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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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Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130
2022
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Initial clinical and treatment patterns of advanced differentiated thyroid cancer: ERUDIT study
European Thyroid Journal, Vol. 11, Núm. 5
2021
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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
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Craniopharyngioma in the Elderly: A Multicenter and Nationwide Study in Spain
Neuroendocrinology, Vol. 111, Núm. 10, pp. 925-936
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3045-3055
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
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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
2020
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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
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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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Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings
Frontiers in Immunology, Vol. 10
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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
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Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia
Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086
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Variable phenotype in HNF1B mutations: Extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract
Clinical Kidney Journal, Vol. 12, Núm. 3, pp. 373-379
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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Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
PLoS ONE, Vol. 12, Núm. 3