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Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, Spaapen LJ, Haagen AA, Dorland L, de Koning TJ. Tabatabaie L, et al. Among authors: dorland l. J Inherit Metab Dis. 2011 Feb;34(1):181-4. doi: 10.1007/s10545-010-9249-5. Epub 2010 Nov 27. J Inherit Metab Dis. 2011. PMID: 21113737 Free PMC article.
Glutathione synthetase deficiency associated with antenatal cerebral bleeding.
Brüggemann LW, Groenendaal F, Ristoff E, Larsson A, Duran M, van Lier JA, Dorland L, Berger R, de Koning TJ. Brüggemann LW, et al. Among authors: dorland l. J Inherit Metab Dis. 2004;27(2):275-6. doi: 10.1023/b:boli.0000028844.84760.a1. J Inherit Metab Dis. 2004. PMID: 15243982
D-serine in the developing human central nervous system.
Fuchs SA, Dorland L, de Sain-van der Velden MG, Hendriks M, Klomp LW, Berger R, de Koning TJ. Fuchs SA, et al. Among authors: dorland l. Ann Neurol. 2006 Oct;60(4):476-80. doi: 10.1002/ana.20977. Ann Neurol. 2006. PMID: 17068790
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: dorland l. 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.
131 results