Publications by authors named "Ana Roche"

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Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.
M Mar Rovira-Remisa, Mónica Moreira, Paula Sol Ventura, Pablo Gonzalez-Alvarez, Núria Mestres, Ana Roche

Mol Genet Metab Rep· June 2023

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Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.
Sofia Temudo Duarte, Judith Armstrong, Ana Roche, Carlos Ortez, Ana Pérez

PLoS One· March 2014

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Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion.
Ana Roche, Jaume Mora, Maria Del Mar Perez, Esther Gean, Belen Perez

Pediatr Blood Cancer· March 2010

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Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.
Ana Roche, Belén Pérez-Dueñas, Juan Antonio Camacho, Rosa J Torres, Juan G Puig

Am J Kidney Dis· April 2009

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