Visser G - Search Results

1

Yield of additional metabolic studies in neurodevelopmental disorders.

Engbers HM, Berger R, van Hasselt P, de Koning T, de Sain-van der Velden MG, Kroes HY, Visser G. Engbers HM, et al. Among authors: visser g. Ann Neurol. 2008 Aug;64(2):212-7. doi: 10.1002/ana.21435. Ann Neurol. 2008. PMID: 18570304

2

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.

Kroes HY, Nievelstein RJ, Barth PG, Nikkels PG, Bergmann C, Gooskens RH, Visser G, van Amstel HK, Beemer FA. Kroes HY, et al. Among authors: visser g. Am J Med Genet A. 2005 Jun 15;135(3):297-301. doi: 10.1002/ajmg.a.30690. Am J Med Genet A. 2005. PMID: 15887274

3

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.

Engbers HM, Dorland L, de Sain MG, Eskes PF, Visser G. Engbers HM, et al. Among authors: visser g. J Inherit Metab Dis. 2005;28(6):1151-2. doi: 10.1007/s10545-005-0190-y. J Inherit Metab Dis. 2005. PMID: 16435213

4

[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect].

Aldenhoven M, Klomp LW, van Hasselt PM, de Koning TJ, Visser G. Aldenhoven M, et al. Among authors: visser g. Ned Tijdschr Geneeskd. 2007 Oct 13;151(41):2266-70. Ned Tijdschr Geneeskd. 2007. PMID: 17987894 Review. Dutch.

5

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX.

de Sain-van der Velden MG, Verrips A, Prinsen BH, de Barse M, Berger R, Visser G. de Sain-van der Velden MG, et al. Among authors: visser g. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S387-93. doi: 10.1007/s10545-008-0963-1. Epub 2008 Oct 24. J Inherit Metab Dis. 2008. PMID: 18949577

6

[Extensive neonatal heel injection screening for metabolic diseases in the Netherlands].

Visser G, van Spronsen FJ, de Sain-van der Velden MG, Blom HJ, Wijburg FA. Visser G, et al. Ned Tijdschr Geneeskd. 2009 May 2;153(18):848-53. Ned Tijdschr Geneeskd. 2009. PMID: 19475862 Dutch. No abstract available.

7

The clinical utility of MRI in patients with neurodevelopmental disorders of unknown origin.

Engbers HM, Nievelstein RA, Gooskens RH, Kroes HY, van Empelen R, Braams O, Wittebol-Post D, Hendriks MM, Visser G. Engbers HM, et al. Among authors: visser g. Eur J Neurol. 2010 Jun 1;17(6):815-22. doi: 10.1111/j.1468-1331.2009.02927.x. Epub 2010 Jan 25. Eur J Neurol. 2010. PMID: 20113335

8

Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.

Albersen M, Bonthuis M, de Roos NM, van den Hurk DA, Carbasius Weber E, Hendriks MM, de Sain-van der Velden MG, de Koning TJ, Visser G. Albersen M, et al. Among authors: visser g. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S283-8. doi: 10.1007/s10545-010-9149-8. Epub 2010 Jun 24. J Inherit Metab Dis. 2010. PMID: 20574715 Free PMC article.

9

Exercise stress testing in children with metabolic or neuromuscular disorders.

Takken T, Groen WG, Hulzebos EH, Ernsting CG, van Hasselt PM, Prinsen BH, Helders PJ, Visser G. Takken T, et al. Among authors: visser g. Int J Pediatr. 2010;2010:254829. doi: 10.1155/2010/254829. Epub 2010 Jul 15. Int J Pediatr. 2010. PMID: 20706686 Free PMC article.

10

Perioperative measures in very long chain acyl-CoA dehydrogenase deficiency.

Vellekoop P, Diekman EF, van Tuijl I, de Vries MM, van Hasselt PM, Visser G. Vellekoop P, et al. Among authors: visser g. Mol Genet Metab. 2011 May;103(1):96-7. doi: 10.1016/j.ymgme.2011.01.010. Epub 2011 Jan 27. Mol Genet Metab. 2011. PMID: 21333574

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