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Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial.

By Villacampa Aubá, Felipe . Orphanet journal of rare diseases, 2016 . 11(1):128. , Fornato Vancouver: Robles NR, Peces R, Gómez Ferrer Á, Villacampa F, Álvarez Ossorio JL, Pérez Segura P et al. Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial. Orphanet J Rare Dis. 2016 Sep 26;11(1):128.

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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

By Martín Hernández, Elena | García Silva, María Teresa | Quijada Fraile, Pilar. Orphanet journal of rare diseases, 2014 . 9:187. , Formato Vancouver: Martín Hernández E, Aldámiz Echevarría L, Castejón Ponce E, Pedrón Giner C, Couce ML, Serrano Nieto J et al. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. Orphanet J Rare Dis. 2014 Nov 30;9:187.

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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

By Quijada Fraile, Pilar | Martín Hernández, Elena | Martínez de Aragón Calvo, Ana | Arenas Barbero, Joaquín | Martín Casanueva, Miguel Ángel | García Silva, María Teresa. Orphanet journal of rare diseases, 2014 , Formato Vancouver: Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM et al. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. Orphanet J Rare Dis. 2014 Dec 24;9:217.

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Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion.

By González Granados, Luis Ignacio. Orphanet Journal of Rare Diseases, 2012 . 7:42. , Formato Vancouver: Alba-Domínguez M, López-Lera A, Garrido S, Nozal P, González-Granado I, Melero J et al. Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion. Orphanet J Rare Dis. 2012 Jun 18;7:42.

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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

By Hernández Laín, Aurelio. Orphanet Journal of Rare Diseases, 2012 . 23;7:82. , Formato Vancouver: Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, et al. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy. Orphanet J Rare Dis. 2012 Oct 23;7:82.

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