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Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á. Cassis L, et al. Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Orphanet J Rare Dis. 2015. PMID: 26714856 Free PMC article. Review.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium. Posset R, et al. J Inherit Metab Dis. 2016 Sep;39(5):661-672. doi: 10.1007/s10545-016-9938-9. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106216
Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Ponce EC, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á. Cassis L, et al. Orphanet J Rare Dis. 2016 Nov 3;11(1):147. doi: 10.1186/s13023-016-0431-1. Orphanet J Rare Dis. 2016. PMID: 27809869 Free PMC article. No abstract available.
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
Opladen T, Cortès-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla À; International Working Group on Neurotransmitter related disorders (iNTD). Opladen T, et al. Mol Genet Metab Rep. 2016 Oct 20;9:61-66. doi: 10.1016/j.ymgmr.2016.09.006. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27830117 Free PMC article.
Pyridoxal Phosphate Supplementation in Neuropediatric Disorders.
Cortès-Saladelafont E, Molero-Luis M, Hsjd Working Group, Artuch R, García-Cazorla À. Cortès-Saladelafont E, et al. Semin Pediatr Neurol. 2016 Nov;23(4):351-358. doi: 10.1016/j.spen.2016.11.009. Epub 2016 Nov 10. Semin Pediatr Neurol. 2016. PMID: 28284396
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Posset R, Garcia-Cazorla A, Valayannopoulos V, Leão Teles E, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium. Posset R, et al. J Inherit Metab Dis. 2018 Jul;41(4):743-744. doi: 10.1007/s10545-017-0117-4. J Inherit Metab Dis. 2018. PMID: 29330779 Free article.
38 results