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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: de koning tj. J Inherit Metab Dis. 2004;27(2):275-6. doi: 10.1023/b:boli.0000028844.84760.a1. J Inherit Metab Dis. 2004. PMID: 15243982
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: de koning tj. 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.
An update on serine deficiency disorders.
van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ. van der Crabben SN, et al. Among authors: de koning tj. J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6. J Inherit Metab Dis. 2013. PMID: 23463425
Assessment of speech in early-onset ataxia: a pilot study.
Kuiper MJ, Brandsma R, Lawerman TF, Lunsing RJ, Keegstra AL, Burger H, De Koning TJ, Tijssen MAJ, Sival DA. Kuiper MJ, et al. Among authors: de koning tj. Dev Med Child Neurol. 2014 Dec;56(12):1202-1206. doi: 10.1111/dmcn.12517. Epub 2014 Jun 18. Dev Med Child Neurol. 2014. PMID: 24942085 Free article.
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.
van Egmond ME, Kuiper A, Eggink H, Sinke RJ, Brouwer OF, Verschuuren-Bemelmans CC, Sival DA, Tijssen MA, de Koning TJ. van Egmond ME, et al. Among authors: de koning tj. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81. doi: 10.1136/jnnp-2014-309106. Epub 2014 Nov 13. J Neurol Neurosurg Psychiatry. 2015. PMID: 25395479 Review.
174 results