Rubio-Gozalbo ME - Search Results

1

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. 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.

2

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities.

Bakker HD, Rubio Gozalbo ME, van Gennip AH. Bakker HD, et al. J Inherit Metab Dis. 1994;17(5):640-1. doi: 10.1007/BF00711611. J Inherit Metab Dis. 1994. PMID: 7837779 No abstract available.

3

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gozalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M. Spaapen LJ, et al. J Inherit Metab Dis. 2001 Jun;24(3):352-8. doi: 10.1023/a:1010596317296. J Inherit Metab Dis. 2001. PMID: 11486900

4

Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.

Rubio-Gozalbo ME, van Waardenburg DA, Forget PP, Spaapen LJ, Verrips A, Vroomen PC. Rubio-Gozalbo ME, et al. J Inherit Metab Dis. 2001 Oct;24(5):605-6. doi: 10.1023/a:1012480130445. J Inherit Metab Dis. 2001. PMID: 11757591

5

N-acetyl-glutamate synthetase deficiency or porto-systemic shunt associated encephalopathy?

Dammers R, Rubio-Gozalbo ME, Robben SG, Bakker JA, Spaapen LJ, Forget PP. Dammers R, et al. Acta Paediatr. 2002;91(6):729. doi: 10.1111/j.1651-2227.2002.tb03318.x. Acta Paediatr. 2002. PMID: 12162617 No abstract available.

6

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

Spaapen LJ, Rubio-Gozalbo ME. Spaapen LJ, et al. Mol Genet Metab. 2003 Feb;78(2):93-9. doi: 10.1016/s1096-7192(02)00229-9. Mol Genet Metab. 2003. PMID: 12618080 Review.

7

Body composition in children with galactosaemia.

Panis B, Forget PP, Nieman FH, van Kroonenburgh MJ, Rubio-Gozalbo ME. Panis B, et al. J Inherit Metab Dis. 2005;28(6):931-7. doi: 10.1007/s10545-005-0189-4. J Inherit Metab Dis. 2005. PMID: 16435185

8

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism.

Vlaardingerbroek H, Hornstra G, de Koning TJ, Smeitink JA, Bakker HD, de Klerk HB, Rubio-Gozalbo ME. Vlaardingerbroek H, et al. Mol Genet Metab. 2006 Jun;88(2):159-65. doi: 10.1016/j.ymgme.2006.01.012. Epub 2006 Mar 10. Mol Genet Metab. 2006. PMID: 16530443

9

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. 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

10

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. 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.

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