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Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R. Vianey-Saban C, et al. Among authors: pagan c. J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. J Inherit Metab Dis. 2016. PMID: 27393412 Review.
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D. Pettazzoni M, et al. Among authors: pagan c. PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017. PLoS One. 2017. PMID: 28749998 Free PMC article.
Monitoring of asparagine depletion and anti-L-asparaginase antibodies in adult acute lymphoblastic leukemia treated in the pediatric-inspired GRAALL-2005 trial.
Paillassa J, Leguay T, Thomas X, Huguet F, Audrain M, Lheritier V, Vianey-Saban C, Acquaviva-Bourdain C, Pagan C, Dombret H, Ifrah N, Boissel N, Hunault-Berger M. Paillassa J, et al. Among authors: pagan c. Blood Cancer J. 2018 May 22;8(5):45. doi: 10.1038/s41408-018-0084-5. Blood Cancer J. 2018. PMID: 29795175 Free PMC article. No abstract available.
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders.
Mandia D, Plaze M, Le Ber I, Ewenczyk C, Morin A, Carle G, Consoli A, Degardin A, Amad A, Moreau C, Anheim M, Tranchant C, Mélé N, Roue-Jagot C, Lagarde J, Sarazin M, Hamelin L, Ellul P, Pagan C, Pettazzoni M, Bekri S, Belliard S, Goizet C, Wallon D, Lamari F, Nadjar Y. Mandia D, et al. Among authors: pagan c. J Neurol. 2020 Nov;267(11):3371-3377. doi: 10.1007/s00415-020-10020-4. Epub 2020 Jun 26. J Neurol. 2020. PMID: 32592146
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H. Scheidecker S, et al. Among authors: pagan c. Hum Mutat. 2019 Oct;40(10):1826-1840. doi: 10.1002/humu.23799. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31116475 Free article.
Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.
Chaste P, Clement N, Mercati O, Guillaume JL, Delorme R, Botros HG, Pagan C, Périvier S, Scheid I, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Gillberg C, Serrano E, Lemière N, Launay JM, Mouren-Simeoni MC, Leboyer M, Gillberg C, Jockers R, Bourgeron T. Chaste P, et al. Among authors: pagan c. PLoS One. 2010 Jul 15;5(7):e11495. doi: 10.1371/journal.pone.0011495. PLoS One. 2010. PMID: 20657642 Free PMC article.
81 results