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Page 1
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. Among authors: pintos morell g. 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.
Genes and exercise intolerance: insights from McArdle disease.
Nogales-Gadea G, Godfrey R, Santalla A, Coll-Cantí J, Pintos-Morell G, Pinós T, Arenas J, Martín MA, Lucia A. Nogales-Gadea G, et al. Among authors: pintos morell g. Physiol Genomics. 2016 Feb;48(2):93-100. doi: 10.1152/physiolgenomics.00076.2015. Epub 2015 Oct 13. Physiol Genomics. 2016. PMID: 26465709 Review.
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. Among authors: pintos morell g. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
[Diagnostic strategy for mitochondrial diseases].
Galán-Ortega A, Coll-Cantí J, Padrós-Fluvià A, Arambarri-Hervias M, Pintos-Morell G. Galán-Ortega A, et al. Among authors: pintos morell g. Rev Neurol. 1999 Jul 1-15;29(1):52-8. Rev Neurol. 1999. PMID: 10528313 Review. Spanish.
79 results