Spaapen LJ - Search Results

1

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.

2

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.

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

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

Spaapen LJ, Bakker JA, van der Meer SB, Sijstermans HJ, Steet RA, Wevers RA, Jaeken J. Spaapen LJ, et al. J Inherit Metab Dis. 2005;28(5):707-14. doi: 10.1007/s10545-005-0015-z. J Inherit Metab Dis. 2005. PMID: 16151902

5

Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites.

Claeys M, Van der Hoeven M, de Die-Smulders C, Bakker JA, Offermans JP, Forget PP, Groener JE, Spaapen LJ. Claeys M, et al. Among authors: spaapen lj. J Inherit Metab Dis. 1999 Jun;22(5):666-7. doi: 10.1023/a:1005546501043. J Inherit Metab Dis. 1999. PMID: 10399100 No abstract available.

6

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. Among authors: spaapen lj. J Inherit Metab Dis. 2001 Oct;24(5):605-6. doi: 10.1023/a:1012480130445. J Inherit Metab Dis. 2001. PMID: 11757591

7

Urinary D-4-hydroxyphenyllactate, D-phenyllactate and D-2-hydroxyisocaproate, abnormalities of bacterial origin.

Spaapen LJ, Ketting D, Wadman SK, Bruinvis L, Duran M. Spaapen LJ, et al. J Inherit Metab Dis. 1987;10(4):383-90. doi: 10.1007/BF01799981. J Inherit Metab Dis. 1987. PMID: 3126358

8

Carbohydrate-deficient transferrin values in neonatal and umbilical cord blood.

van Pelt J, Bakker JA, Velmans MH, Spaapen LJ. van Pelt J, et al. Among authors: spaapen lj. J Inherit Metab Dis. 1996;19(2):253-6. doi: 10.1007/BF01799443. J Inherit Metab Dis. 1996. PMID: 8739979 No abstract available.

9

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.

10

Partial N-acetyl-glutamate synthetase deficiency masquerading as a valproic acid-induced Reye-like syndrome.

Forget PP, van Oosterhout M, Bakker JA, Wermuth B, Vles JS, Spaapen LJ. Forget PP, et al. Among authors: spaapen lj. Acta Paediatr. 1999 Dec;88(12):1409-11. doi: 10.1080/080352599750030194. Acta Paediatr. 1999. PMID: 10626533 No abstract available.

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