Visser G - Search Results

1

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients.

Welsink-Karssies MM, Polderman JAW, Nieveen van Dijkum EJ, Preckel B, Schlack WS, Visser G, Hollak CE, Hermanides J. Welsink-Karssies MM, et al. Among authors: visser g. JIMD Rep. 2017;34:49-54. doi: 10.1007/8904_2016_6. Epub 2016 Aug 13. JIMD Rep. 2017. PMID: 27518779 Free PMC article.

2

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

3

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ. Hollak CE, et al. Among authors: visser g. Mol Genet Metab. 2012 Nov;107(3):526-33. doi: 10.1016/j.ymgme.2012.06.015. Epub 2012 Jun 30. Mol Genet Metab. 2012. PMID: 22818240

4

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

Diekman EF, Boelen CC, Prinsen BH, Ijlst L, Duran M, de Koning TJ, Waterham HR, Wanders RJ, Wijburg FA, Visser G. Diekman EF, et al. Among authors: visser g. JIMD Rep. 2013;7:1-6. doi: 10.1007/8904_2012_128. Epub 2012 Mar 31. JIMD Rep. 2013. PMID: 23430487 Free PMC article.

5

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.

Schene IF, Kalinina Ayuso V, de Sain-van der Velden M, van Gassen KL, Cuppen I, van Hasselt PM, Visser G. Schene IF, et al. Among authors: visser g. JIMD Rep. 2016;25:9-13. doi: 10.1007/8904_2015_472. Epub 2015 Jul 5. JIMD Rep. 2016. PMID: 26141460 Free PMC article.

6

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

Diekman E, de Sain-van der Velden M, Waterham H, Kluijtmans L, Schielen P, van Veen EB, Ferdinandusse S, Wijburg F, Visser G. Diekman E, et al. Among authors: visser g. JIMD Rep. 2016;27:101-6. doi: 10.1007/8904_2015_476. Epub 2015 Oct 10. JIMD Rep. 2016. PMID: 26453363 Free PMC article.

7

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Diekman EF, Visser G, Schmitz JP, Nievelstein RA, de Sain-van der Velden M, Wardrop M, Van der Pol WL, Houten SM, van Riel NA, Takken T, Jeneson JA. Diekman EF, et al. Among authors: visser g. PLoS One. 2016 Feb 16;11(2):e0147818. doi: 10.1371/journal.pone.0147818. eCollection 2016. PLoS One. 2016. PMID: 26881790 Free PMC article.

8

Beneficial Effect of BH₄ Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

de Sain-van der Velden MGM, Kuper WFE, Kuijper MA, van Kats LAT, Prinsen HCMT, Balemans ACJ, Visser G, van Gassen KLI, van Hasselt PM. de Sain-van der Velden MGM, et al. Among authors: visser g. JIMD Rep. 2018;42:99-103. doi: 10.1007/8904_2017_86. Epub 2018 Jan 30. JIMD Rep. 2018. PMID: 29380259 Free PMC article.

9

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.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,007 results

Search Page

Filters