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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: pintos morell g. 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.
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
Alagille syndrome associated with intestinal atresia.
González Pastor S, Montraveta Querol M, Del Alcazar Muñoz R, Ojanguren Sabán MI, Pintos Morell G, Quintero Bernabeu J, Juamperez Goñi J, Sala Llinas M. González Pastor S, et al. Gastroenterol Hepatol. 2016 Dec;39(10):667-668. doi: 10.1016/j.gastrohep.2015.09.015. Epub 2015 Dec 1. Gastroenterol Hepatol. 2016. PMID: 26596367 English, Spanish. No abstract available.
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll-Cantí J, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A. Santalla A, et al. BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2. BMC Genomics. 2017. PMID: 29143597 Free PMC article.
Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis.
Jönsson ÅLM, Bendstrup E, Mogensen S, Kopras EJ, McCormack FX, Campo I, Mariani F, Escribano-Montaner A, Holm AM, Martinez-Colls MDM, Pintos-Morell G, Taillé C, Crestani B, Hilberg O, Hvarregaard Christensen J, Simonsen U. Jönsson ÅLM, et al. Eur Respir J. 2020 Feb 27;55(2):1900806. doi: 10.1183/13993003.00806-2019. Print 2020 Feb. Eur Respir J. 2020. PMID: 31831582 Free article.
77 results