Publicaciones en las que colabora con Víctor Manuel García Nieto (11)

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

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

2023

  1. 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

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

2021

  1. Enfermedad de Dent

    Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 177-188

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

2014

  1. Severe manifestation of bartter syndrome type IV caused by a novel insertion mutation in the BSND gene

    Clinical Nephrology, Vol. 81, Núm. 5, pp. 363-368

2013

  1. Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene

    Journal of Pediatric Genetics, Vol. 2, Núm. 3, pp. 133-140

2011

  1. Dent's disease: Clinical features and molecular basis

    Pediatric Nephrology, Vol. 26, Núm. 5, pp. 693-704

2007

  1. A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

    Journal of Human Genetics, Vol. 52, Núm. 3, pp. 255-261

  2. Molecular analysis of the CLCN5 gene in Dent's disease: First mutation identified in a patient from South America

    Clinical Nephrology, Vol. 68, Núm. 6, pp. 367-372