Publicaciones en colaboración con investigadores/as de Hospital Universitario Nuestra Señora de Candelaria (38)

2024

  1. 4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1

    International Journal of Molecular Sciences, Vol. 25, Núm. 15

  2. Application of STOPP/START criteria in older patients in primary care using RStudio®

    BMC Geriatrics, Vol. 24, Núm. 1

  3. Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy

    Nefrologia, Vol. 44, Núm. 1, pp. 23-31

2023

  1. Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

    Biomedicines, Vol. 11, Núm. 11

  2. Circulating miR-206 and miR-1246 as Markers in the Early Diagnosis of Lung Cancer in Patients with Chronic Obstructive Pulmonary Disease

    International Journal of Molecular Sciences, Vol. 24, Núm. 15

  3. New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions

    Genes, Vol. 14, Núm. 9

  4. Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)

    International Journal of Molecular Sciences, Vol. 24, Núm. 9

  5. Pharmacist comprehensive review of fall-risk-increasing drugs and polypharmacy in elderly Spanish community patients using RStudio®

    Heliyon, Vol. 9, Núm. 6

2022

  1. Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat

    Nefrologia, Vol. 42, Núm. 3, pp. 273-279

2020

  1. Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement

    Nefrologia, Vol. 40, Núm. 2, pp. 126-132

  2. Cost-effectiveness of the hospital nutrition screening tool CIPA

    Archives of Medical Science, Vol. 16, Núm. 2, pp. 273-281

  3. 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

  4. Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome

    Intractable and Rare Diseases Research, Vol. 9, Núm. 4, pp. 222-228

2019

  1. Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Gene, Vol. 689, pp. 227-234

  2. Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

    BMC Medical Genetics, Vol. 20, Núm. 1

2018

  1. Optimisation of nutritional screening tool cipa: Are two parameters of protein really necessary?

    Nutricion Hospitalaria, Vol. 35, Núm. 4, pp. 914-919

  2. Splicing analysis of exonic OCRL mutations causing lowe syndrome or dent-2 disease

    Genes, Vol. 9, Núm. 1

  3. Validity of the new nutrition screening tool Control of Food Intake, Protein, and Anthropometry (CIPA) in non-surgical inpatients

    Archives of Medical Science, Vol. 14, Núm. 5, pp. 1020-1024

2017

  1. Clinical and cost-effectiveness analysis of early detection of patients at nutrition risk during their hospital stay through the new screening method CIPA: A study protocol

    BMC Health Services Research, Vol. 17, Núm. 1

2016

  1. Análisis del grado de satisfacción alimentaria percibido por los pacientes en un hospital de tercer nivel

    Nutricion Hospitalaria, Vol. 33, Núm. 6, pp. 1361-1366