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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G. Schollen E, et al. Hum Mutat. 2000 Sep;16(3):247-52. doi: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10980531 Review.
Neurology of inherited glycosylation disorders.
Freeze HH, Eklund EA, Ng BG, Patterson MC. Freeze HH, et al. Among authors: patterson mc. Lancet Neurol. 2012 May;11(5):453-66. doi: 10.1016/S1474-4422(12)70040-6. Lancet Neurol. 2012. PMID: 22516080 Free PMC article.
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Freeze HH. Ng BG, et al. Among authors: patterson mc. Am J Hum Genet. 2013 Apr 4;92(4):632-6. doi: 10.1016/j.ajhg.2013.03.012. Am J Hum Genet. 2013. PMID: 23561849 Free PMC article.
Neurological aspects of human glycosylation disorders.
Freeze HH, Eklund EA, Ng BG, Patterson MC. Freeze HH, et al. Among authors: patterson mc. Annu Rev Neurosci. 2015 Jul 8;38:105-25. doi: 10.1146/annurev-neuro-071714-034019. Epub 2015 Apr 2. Annu Rev Neurosci. 2015. PMID: 25840006 Free PMC article. Review.
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.
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.
197 results