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Thiamine transporter-2 deficiency: outcome and treatment monitoring.
Ortigoza-Escobar JD, Serrano M, Molero M, Oyarzabal A, Rebollo M, Muchart J, Artuch R, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: rebollo m. Orphanet J Rare Dis. 2014 Jun 23;9:92. doi: 10.1186/1750-1172-9-92. Orphanet J Rare Dis. 2014. PMID: 24957181 Free PMC article.
The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
Martorell L, Yubero D, Capdevila EC, Fernández Isern G, Salinas D, Mari Vico R, Rebollo M, Muchart J, Armstrong J, Ortigoza-Escobar JD. Martorell L, et al. Among authors: rebollo m. Clin Genet. 2022 May;101(5-6):575-576. doi: 10.1111/cge.14124. Epub 2022 Feb 22. Clin Genet. 2022. PMID: 35191016 No abstract available.
Right Structural and Functional Reorganization in Four-Year-Old Children with Perinatal Arterial Ischemic Stroke Predict Language Production.
François C, Ripollés P, Ferreri L, Muchart J, Sierpowska J, Fons C, Solé J, Rebollo M, Zatorre RJ, Garcia-Alix A, Bosch L, Rodriguez-Fornells A. François C, et al. Among authors: rebollo m. eNeuro. 2019 Aug 28;6(4):ENEURO.0447-18.2019. doi: 10.1523/ENEURO.0447-18.2019. Print 2019 Jul/Aug. eNeuro. 2019. PMID: 31383726 Free PMC article.
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, Carrera-García L, Ortez C, Jou C, Muchart J, Rebollo M, Armstrong J, Colomer J, Garcia-Cazorla À, Hoenicka J, Palau F, Nascimento A. Natera-de Benito D, et al. Among authors: rebollo m. Pediatr Neurol. 2021 Jun;119:40-44. doi: 10.1016/j.pediatrneurol.2021.03.005. Epub 2021 Mar 26. Pediatr Neurol. 2021. PMID: 33894639
230 results