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Quo vadis: the re-definition of "inborn metabolic diseases".
Morava E, Rahman S, Peters V, Baumgartner MR, Patterson M, Zschocke J. Morava E, et al. Among authors: patterson m. J Inherit Metab Dis. 2015 Nov;38(6):1003-6. doi: 10.1007/s10545-015-9893-x. Epub 2015 Sep 29. J Inherit Metab Dis. 2015. PMID: 26420281 No abstract available.
Peer review fraud-it's not big and it's not clever.
Rahman S, Baumgartner MR, Morava E, Patterson M, Peters V, Zschocke J. Rahman S, et al. Among authors: patterson m. J Inherit Metab Dis. 2016 Jan;39(1):1-2. doi: 10.1007/s10545-015-9905-x. Epub 2015 Dec 11. J Inherit Metab Dis. 2016. PMID: 26660661 No abstract available.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: patterson m. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Newborn screening: To WES or not to WES, that is the question.
Morava E, Baumgartner M, Patterson M, Peters V, Rahman S. Morava E, et al. Among authors: patterson m. J Inherit Metab Dis. 2020 Sep;43(5):904-905. doi: 10.1002/jimd.12303. Epub 2020 Sep 2. J Inherit Metab Dis. 2020. PMID: 32844432 No abstract available.
Developments in evidence creation for treatments of inborn errors of metabolism.
Stockler-Ipsiroglu S, Potter BK, Yuskiv N, Tingley K, Patterson M, van Karnebeek C. Stockler-Ipsiroglu S, et al. Among authors: patterson m. J Inherit Metab Dis. 2021 Jan;44(1):88-98. doi: 10.1002/jimd.12315. Epub 2020 Oct 4. J Inherit Metab Dis. 2021. PMID: 32944978 Free PMC article. Review.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Čechová A, et al. Among authors: patterson m. Mol Genet Metab. 2021 Aug;133(4):397-399. doi: 10.1016/j.ymgme.2021.06.003. Epub 2021 Jun 11. Mol Genet Metab. 2021. PMID: 34140212 Free PMC article.
2,007 results