Visser G - Search Results

1

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.

Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Bosch AM, et al. Among authors: visser g. J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26. J Inherit Metab Dis. 2011. PMID: 21110228 Free PMC article.

2

Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation.

van Spronsen FJ, Smit GP, Wijburg FA, Thomasse Y, Visser G, Heymans HS. van Spronsen FJ, et al. Among authors: visser g. J Inherit Metab Dis. 1995;18(2):111-4. doi: 10.1007/BF00711742. J Inherit Metab Dis. 1995. PMID: 7564222 No abstract available.

3

Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.

Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP. Niezen-Koning KE, et al. Among authors: visser g. Eur J Pediatr. 1997 Nov;156(11):870-3. doi: 10.1007/s004310050733. Eur J Pediatr. 1997. PMID: 9392403 Review.

4

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

5

[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder].

Wijburg MT, Wenniger-Prick LJ, Bosch AM, Visser G, Bams-Mengerink A. Wijburg MT, et al. Among authors: visser g. Ned Tijdschr Geneeskd. 2008 Mar 15;152(11):632-6. Ned Tijdschr Geneeskd. 2008. PMID: 18410025 Dutch.

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

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.

8

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.

Visser G, de Jager W, Verhagen LP, Smit GP, Wijburg FA, Prakken BJ, Coffer PJ, Buitenhuis M. Visser G, et al. J Inherit Metab Dis. 2012 Mar;35(2):287-300. doi: 10.1007/s10545-011-9379-4. Epub 2011 Aug 24. J Inherit Metab Dis. 2012. PMID: 21863279

9

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR. Ebberink MS, et al. Among authors: visser g. J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778. J Med Genet. 2012. PMID: 22581968

10

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

Touw CM, Smit GP, de Vries M, de Klerk JB, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJ, Waterham HR, Reijngoud DJ, Derks TG. Touw CM, et al. Among authors: visser g. Orphanet J Rare Dis. 2012 May 25;7:30. doi: 10.1186/1750-1172-7-30. Orphanet J Rare Dis. 2012. PMID: 22630369 Free PMC article.

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