Adela
Urisarri Ruiz de Cortázar
Publicacións
2025
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Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications
Nefrología (English Edition), Vol. 45, Núm. 5, pp. 369-380
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P05.022.C Gitelman and Bartter syndromes: insights from a longitudinal cohort study on salt-wasting tubulopathies
European Journal of Human Genetics
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P05.038.C Refining the diagnosis of Renal Hypouricemia: genetic and biochemical insights
European Journal of Human Genetics
2021
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Desarrollo prenatal del riñón y de las vías urinarias: bases geneticomoleculares del desarrollo renal
Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 467-478
2019
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Síndrome nefrótico
Manual de pediatría (Ergon), pp. 1163-1168
2017
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Look Beyond a Strange Smile: A Clue to Renal Disease
Journal of Pediatrics, Vol. 191, pp. 276-276.e1
2009
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Renal dysplasia/hypoplasia, Williams Syndrome phenotype and non-Hodgkin lymphoma in the same patient: Only a coincidence?
Pediatric Nephrology, Vol. 24, Núm. 5, pp. 1081-1084
2006
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Evolution of serum lipids and lipoprotein (a) levels in epileptic children treated with carbamazepine, valproic acid, and phenobarbital
Journal of Child Neurology, Vol. 21, Núm. 1, pp. 48-53