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203 results

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Page 1
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.
Veiga-da-Cunha M, Verhoeven-Duif NM, de Koning TJ, Duran M, Dorland B, Van Schaftingen E. Veiga-da-Cunha M, et al. J Inherit Metab Dis. 2013 Nov;36(6):961-6. doi: 10.1007/s10545-012-9568-9. Epub 2012 Dec 14. J Inherit Metab Dis. 2013. PMID: 23242558
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R. Klomp LW, et al. Among authors: de koning tj. Am J Hum Genet. 2000 Dec;67(6):1389-99. doi: 10.1086/316886. Epub 2000 Oct 27. Am J Hum Genet. 2000. PMID: 11055895 Free PMC article.
Fatal cerebral edema associated with serine deficiency in CSF.
Keularts IM, Leroy PL, Rubio-Gozalbo EM, Spaapen LJ, Weber B, Dorland B, de Koning TJ, Verhoeven-Duif NM. Keularts IM, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S181-5. doi: 10.1007/s10545-010-9067-9. Epub 2010 Mar 19. J Inherit Metab Dis. 2010. PMID: 20300853 Free PMC article.
Quantification of free and total sialic acid excretion by LC-MS/MS.
van der Ham M, Prinsen BH, Huijmans JG, Abeling NG, Dorland B, Berger R, de Koning TJ, de Sain-van der Velden MG. van der Ham M, et al. Among authors: de koning tj, de sain van der velden mg. J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Apr 1;848(2):251-7. doi: 10.1016/j.jchromb.2006.10.066. Epub 2006 Nov 22. J Chromatogr B Analyt Technol Biomed Life Sci. 2007. PMID: 17123874
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. Among authors: de koning tj. 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.
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.
de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schryver J, Duran M, van den Berg IE, Gerwig GJ, Berger R, Poll-The BT. de Koning TJ, et al. Among authors: de schryver j, de jong gj. Biochem Biophys Res Commun. 1998 Apr 7;245(1):38-42. doi: 10.1006/bbrc.1998.8385. Biochem Biophys Res Commun. 1998. PMID: 9535779
203 results