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Page 1
Broad screening test for sphingolipid-storage diseases.
Chen CS, Patterson MC, Wheatley CL, O'Brien JF, Pagano RE. Chen CS, et al. Among authors: patterson mc. Lancet. 1999 Sep 11;354(9182):901-5. doi: 10.1016/S0140-6736(98)10034-X. Lancet. 1999. PMID: 10489949
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. 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.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. Ng BG, et al. Among authors: patterson mc. Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 30817854 Free PMC article.
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. 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.
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Lam C, et al. Among authors: patterson mc. Mol Genet Metab. 2024 Aug;142(4):108509. doi: 10.1016/j.ymgme.2024.108509. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38959600
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. 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.
192 results