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Page 1
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.
Jaeger B, Abeling NG, Salomons GS, Struys EA, Simas-Mendes M, Geukers VG, Poll-The BT. Jaeger B, et al. Among authors: abeling ng. Mol Genet Metab Rep. 2016 Feb 10;6:60-3. doi: 10.1016/j.ymgmr.2016.01.004. eCollection 2016 Mar. Mol Genet Metab Rep. 2016. PMID: 27014579 Free PMC article.
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Van Kuilenburg AB, et al. Among authors: abeling ng. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711. Hum Genet. 1999. PMID: 10071185 Review.
Molybdenum cofactor deficiency can mimic postanoxic encephalopathy.
Bakker HD, Abeling NG, ten Houten R, van den Blij JF, Overweg-Plandsoen WC, Wanders RJ, van Gennip AH. Bakker HD, et al. Among authors: abeling ng. J Inherit Metab Dis. 1993;16(5):900-1. doi: 10.1007/BF00714290. J Inherit Metab Dis. 1993. PMID: 8295412 No abstract available.
103 results