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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.
J Genet. 2020;99:7.
J Genet. 2020.
PMID: 32089526
Free article.
Protocol For Patients With Suspected Acute Porphyria.
Castelbón Fernández FJ, Solares Fernandez I, Arranz Canales E, Enríquez de Salamanca Lorente R, Morales Conejo M.
Castelbón Fernández FJ, et al. Among authors: arranz canales e.
Rev Clin Esp. 2020 Dec;220(9):592-596. doi: 10.1016/j.rce.2019.10.012. Epub 2020 Mar 3.
Rev Clin Esp. 2020.
PMID: 32143835
Review.
English, Spanish.
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, Moltó-Abad M, Moreno-Martínez D, García Morillo S, Blasco-Alonso J, Couce ML, Gil Sánchez R, Cortès-Saladelafont E, López Rodríguez MA, García-Silva MT, Morales Conejo M.
Quijada-Fraile P, et al. Among authors: arranz canales e.
Orphanet J Rare Dis. 2021 Nov 3;16(1):464. doi: 10.1186/s13023-021-02074-y.
Orphanet J Rare Dis. 2021.
PMID: 34732228
Free PMC article.
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Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.
Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Morán M, Domínguez-González C, Arranz-Canales E, Ramos-González A, Arenas J, Martín MA, González de la Aleja J.
Guerrero-Molina MP, et al. Among authors: arranz canales e.
J Neurol. 2022 Jun;269(6):3238-3248. doi: 10.1007/s00415-021-10942-7. Epub 2022 Jan 28.
J Neurol. 2022.
PMID: 35088140
Free PMC article.
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High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Morán M, Domínguez-González C, Arranz-Canales E, Ramos-González A, Arenas J, Martín MA, de la Aleja JG.
Guerrero-Molina MP, et al. Among authors: arranz canales e.
Eur J Neurol. 2023 Feb;30(2):538-547. doi: 10.1111/ene.15626. Epub 2022 Nov 18.
Eur J Neurol. 2023.
PMID: 36334048
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The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study.
Castelbón Fernández FJ, Barreda Sánchez M, Arranz Canales E, Hernández Contreras ME, Solares I, Morales Conejo M, Muñoz Cuadrado Á, Casado Gómez A, Yébenes Cortés M, Guillén Navarro E.
Castelbón Fernández FJ, et al. Among authors: arranz canales e.
Med Clin (Barc). 2024 Feb 9;162(3):103-111. doi: 10.1016/j.medcli.2023.08.009. Epub 2023 Oct 12.
Med Clin (Barc). 2024.
PMID: 37838536
English, Spanish.
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[Sudden onset of distal bullae and splinter hemorraghes].
Castellanos-González M, Arranz-Canales E, Velasco-Rodríguez D, Vanaclocha-Sebastián F.
Castellanos-González M, et al. Among authors: arranz canales e.
Enferm Infecc Microbiol Clin. 2014 Jun-Jul;32(6):398-9. doi: 10.1016/j.eimc.2013.10.012. Epub 2013 Dec 16.
Enferm Infecc Microbiol Clin. 2014.
PMID: 24355606
Spanish.
No abstract available.
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