Elena
Ramos Trujillo
Investigadora
Víctor Manuel
García Nieto
Publikationen, an denen er mitarbeitet Víctor Manuel García Nieto (10)
2024
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Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy
Nefrologia, Vol. 44, Núm. 1, pp. 23-31
2023
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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
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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
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Enfermedad de Dent
Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 177-188
2020
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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
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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
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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
2011
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Dent's disease: Clinical features and molecular basis
Pediatric Nephrology, Vol. 26, Núm. 5, pp. 693-704
2007
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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
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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