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Pearls & Oy-sters: Challenges and Controversies in Wilson Disease.
Neurology. 2022 Aug 9;99(6):251-255. doi: 10.1212/WNL.0000000000200836. Epub 2022 Jun 13.
Neurology. 2022.
PMID: 35940888
Free PMC article.
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group; Martín MA, Montoya J, Artuch R.
Bellusci M, et al.
Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590.
Genes (Basel). 2021.
PMID: 34680984
Free PMC article.
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Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
Pérez-López J, Moltó-Abad M, Muñoz-Delgado C, Morales-Conejo M, Ceberio-Hualde L, Del Toro M.
Pérez-López J, et al. Among authors: ceberio hualde l.
Mol Genet Metab. 2018 Jul;124(3):216-227. doi: 10.1016/j.ymgme.2018.04.013. Epub 2018 Apr 30.
Mol Genet Metab. 2018.
PMID: 29801985
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[Treatment of encephalopathy by means of valproic acid with carglumic acid. Reply].
Nava-Mateos JJ, Roiz-Rey P, Diaz Alvarez-Mediavilla J, Cebrian-Novella D, Gomez-Del Olmo V, Ceberio-Hualde L.
Nava-Mateos JJ, et al. Among authors: ceberio hualde l.
Rev Neurol. 2018 Feb 16;66(4):136.
Rev Neurol. 2018.
PMID: 29435972
Free article.
Spanish.
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[Treatment of encephalopathy by means of valproic acid with carglumic acid: two case reports and a review of the literature].
Nava-Mateos JJ, Roiz-Rey P, Diaz Alvarez-Mediavilla J, Cebrian-Novella D, Gomez-Del Olmo V, Ceberio-Hualde L.
Nava-Mateos JJ, et al. Among authors: ceberio hualde l.
Rev Neurol. 2017 Nov 1;65(9):409-414.
Rev Neurol. 2017.
PMID: 29071700
Free article.
Review.
Spanish.
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Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.
Pérez-López J, Ceberio-Hualde L, García-Morillo JS, Grau-Junyent JM, Hermida Ameijeiras A, López-Rodríguez M, Milisenda JC, Moltó Abad M, Morales-Conejo M, Nava Mateos JJ.
Pérez-López J, et al. Among authors: ceberio hualde l.
Mol Genet Metab Rep. 2017 Feb 3;10:92-95. doi: 10.1016/j.ymgmr.2017.01.011. eCollection 2017 Mar.
Mol Genet Metab Rep. 2017.
PMID: 28224082
Free PMC article.
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[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement].
Pérez-López J, Ceberio-Hualde L, García Morillo JS, Grau-Junyent JM, Hermida Ameijeiras Á, López-Rodríguez M, Morales-Conejo M, Nava Mateos JJ, Aldámiz Echevarri Azuara LJ, Campistol J, Couce ML, García-Silva MT, González Gutiérrez-Solana L, Del Toro M; Sociedad Española de Medicina Interna (SEMI); Sociedad Española de Neurología Pediátrica (SENEP).
Pérez-López J, et al. Among authors: ceberio hualde l.
Med Clin (Barc). 2016 Dec 2;147(11):506.e1-506.e7. doi: 10.1016/j.medcli.2016.09.018. Epub 2016 Nov 3.
Med Clin (Barc). 2016.
PMID: 27816186
Spanish.
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Morbidity and mortality in the antiphospholipid syndrome during a 10-year period: a multicentre prospective study of 1000 patients.
Cervera R, Serrano R, Pons-Estel GJ, Ceberio-Hualde L, Shoenfeld Y, de Ramón E, Buonaiuto V, Jacobsen S, Zeher MM, Tarr T, Tincani A, Taglietti M, Theodossiades G, Nomikou E, Galeazzi M, Bellisai F, Meroni PL, Derksen RH, de Groot PG, Baleva M, Mosca M, Bombardieri S, Houssiau F, Gris JC, Quéré I, Hachulla E, Vasconcelos C, Fernández-Nebro A, Haro M, Amoura Z, Miyara M, Tektonidou M, Espinosa G, Bertolaccini ML, Khamashta MA; Euro-Phospholipid Project Group (European Forum on Antiphospholipid Antibodies).
Cervera R, et al. Among authors: ceberio hualde l.
Ann Rheum Dis. 2015 Jun;74(6):1011-8. doi: 10.1136/annrheumdis-2013-204838. Epub 2014 Jan 24.
Ann Rheum Dis. 2015.
PMID: 24464962
Free article.
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