Visser G - Search Results

1

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

Franik S, Huidekoper HH, Visser G, de Vries M, de Boer L, Hermans-Peters M, Rodenburg R, Verhaak C, Vlieger AM, Smeitink JA, Janssen MC, Wortmann SB. Franik S, et al. Among authors: visser g. J Inherit Metab Dis. 2015 May;38(3):477-82. doi: 10.1007/s10545-014-9773-9. Epub 2014 Oct 11. J Inherit Metab Dis. 2015. PMID: 25303853

2

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.

Huidekoper HH, Visser G, Ackermans MT, Sauerwein HP, Wijburg FA. Huidekoper HH, et al. Among authors: visser g. J Inherit Metab Dis. 2010 Feb;33(1):25-31. doi: 10.1007/s10545-009-9030-9. Epub 2010 Feb 2. J Inherit Metab Dis. 2010. PMID: 20127282 Free PMC article.

3

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

4

Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).

de Ruijter J, Broere L, Mulder MF, van der Ploeg AT, Rubio-Gozalbo ME, Wortmann SB, Visser G, Wijburg FA. de Ruijter J, et al. Among authors: visser g. J Inherit Metab Dis. 2014 May;37(3):447-54. doi: 10.1007/s10545-013-9658-3. Epub 2013 Oct 31. J Inherit Metab Dis. 2014. PMID: 24173409

5

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Renkema GH, Wortmann SB, Smeets RJ, Venselaar H, Antoine M, Visser G, Ben-Omran T, van den Heuvel LP, Timmers HJ, Smeitink JA, Rodenburg RJ. Renkema GH, et al. Among authors: visser g. Eur J Hum Genet. 2015 Feb;23(2):202-9. doi: 10.1038/ejhg.2014.80. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781757 Free PMC article.

6

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT. Renkema GH, et al. Among authors: visser g. Hum Genet. 2017 Jun;136(6):759-769. doi: 10.1007/s00439-017-1794-7. Epub 2017 Apr 6. Hum Genet. 2017. PMID: 28386624 Free PMC article.

7

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G. Schene IF, et al. Among authors: visser g. JIMD Rep. 2019;45:99-104. doi: 10.1007/8904_2018_148. Epub 2018 Dec 20. JIMD Rep. 2019. PMID: 30569318 Free PMC article.

8

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Bleeker JC, Kok IL, Ferdinandusse S, de Vries M, Derks TGJ, Mulder MF, Williams M, Gozalbo ER, Bosch AM, van den Hurk DT, de Sain-van der Velden MGM, Waterham HR, Wijburg FA, Visser G. Bleeker JC, et al. Among authors: visser g. J Inherit Metab Dis. 2019 Jan;42(1):159-168. doi: 10.1002/jimd.12037. J Inherit Metab Dis. 2019. PMID: 30740737

9

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G. Bleeker JC, et al. Among authors: visser g. J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30761551

10

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ. Jager EA, et al. Among authors: visser g. J Inherit Metab Dis. 2019 Sep;42(5):890-897. doi: 10.1002/jimd.12102. Epub 2019 May 16. J Inherit Metab Dis. 2019. PMID: 31012112

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