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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: spaapen lj. 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.
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. Among authors: spaapen lj. 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.
Untreated classical galactosemia patient with mild phenotype.
Panis B, Bakker JA, Sels JP, Spaapen LJ, van Loon LJ, Rubio-Gozalbo ME. Panis B, et al. Among authors: spaapen lj. Mol Genet Metab. 2006 Nov;89(3):277-9. doi: 10.1016/j.ymgme.2006.03.002. Epub 2006 Apr 18. Mol Genet Metab. 2006. PMID: 16621642
Effect of calcium, vitamins K1 and D3 on bone in galactosemia.
Panis B, Vermeer C, van Kroonenburgh MJPG, Nieman FHM, Menheere PPCA, Spaapen LJ, Rubio-Gozalbo ME. Panis B, et al. Among authors: spaapen lj. Bone. 2006 Nov;39(5):1123-1129. doi: 10.1016/j.bone.2006.05.002. Epub 2006 Jun 19. Bone. 2006. PMID: 16782422 Clinical Trial.
The endocrine system in treated patients with classical galactosemia.
Rubio-Gozalbo ME, Panis B, Zimmermann LJ, Spaapen LJ, Menheere PP. Rubio-Gozalbo ME, et al. Among authors: spaapen lj. Mol Genet Metab. 2006 Dec;89(4):316-22. doi: 10.1016/j.ymgme.2006.07.005. Epub 2006 Aug 28. Mol Genet Metab. 2006. PMID: 16935538
45 results