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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
Hyperketonaemia in glycerol kinase deficiency.
Sjarif DR, Dorland L, Sperl W, de Koning TJ, Beemer FA, Poll-The BT, Duran M. Sjarif DR, et al. Among authors: de koning tj. J Inherit Metab Dis. 2000 Nov;23(7):760-4. doi: 10.1023/a:1005680211483. J Inherit Metab Dis. 2000. PMID: 11117440 No abstract available.
Isolated glycerol kinase deficiency and Fanconi anemia.
Sjarif DR, Révész T, de Koning TJ, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. Among authors: de koning tj. Am J Med Genet. 2001 Mar 1;99(2):159-60. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1137>3.0.co;2-4. Am J Med Genet. 2001. PMID: 11241478 No abstract available.
Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registries.
van Hasselt PM, de Koning TJ, Kvist N, de Vries E, Lundin CR, Berger R, Kimpen JL, Houwen RH, Jorgensen MH, Verkade HJ; Netherlands Study Group for Biliary Atresia Registry. van Hasselt PM, et al. Among authors: de vries e, de koning tj. Pediatrics. 2008 Apr;121(4):e857-63. doi: 10.1542/peds.2007-1788. Pediatrics. 2008. PMID: 18381514
Vitamin K deficiency bleeding in cholestatic infants with alpha-1-antitrypsin deficiency.
van Hasselt PM, Kok K, Vorselaars AD, van Vlerken L, Nieuwenhuys E, de Koning TJ, de Vries RA, Houwen RH. van Hasselt PM, et al. Among authors: de vries ra, de koning tj. Arch Dis Child Fetal Neonatal Ed. 2009 Nov;94(6):F456-60. doi: 10.1136/adc.2008.148239. Epub 2009 May 3. Arch Dis Child Fetal Neonatal Ed. 2009. PMID: 19414430
177 results