Smit GP - Search Results

1

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.

Martens DH, Kuijpers TW, Maianski NA, Rake JP, Smit GP, Visser G. Martens DH, et al. Among authors: smit gp. J Inherit Metab Dis. 2006 Feb;29(1):224-5. doi: 10.1007/s10545-006-0146-x. J Inherit Metab Dis. 2006. PMID: 16601899

2

Intestinal function in glycogen storage disease type I.

Visser G, Rake JP, Kokke FT, Nikkels PG, Sauer PJ, Smit GP. Visser G, et al. Among authors: smit gp. J Inherit Metab Dis. 2002 Aug;25(4):261-7. doi: 10.1023/a:1016572706488. J Inherit Metab Dis. 2002. PMID: 12227456 Clinical Trial.

3

Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).

Schippers HM, Smit GP, Rake JP, Visser G. Schippers HM, et al. Among authors: smit gp. J Inherit Metab Dis. 2003;26(1):43-7. doi: 10.1023/a:1024071328772. J Inherit Metab Dis. 2003. PMID: 12872839

4

Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study.

Rake JP, Visser G, Huismans D, Huitema S, van der Veer E, Piers DA, Smit GP. Rake JP, et al. Among authors: smit gp. J Inherit Metab Dis. 2003;26(4):371-84. doi: 10.1023/a:1025111220095. J Inherit Metab Dis. 2003. PMID: 12971425

5

Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia.

den Hollander NC, Mulder DJ, Graaff R, Thorpe SR, Baynes JW, Smit GP, Smit AJ. den Hollander NC, et al. Among authors: smit gp, smit aj. J Inherit Metab Dis. 2007 Nov;30(6):916-23. doi: 10.1007/s10545-007-0507-0. Epub 2007 Jun 14. J Inherit Metab Dis. 2007. PMID: 17570077 Free PMC article.

6

Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control.

Bernier AV, Sentner CP, Correia CE, Theriaque DW, Shuster JJ, Smit GP, Weinstein DA. Bernier AV, et al. Among authors: smit gp. J Inherit Metab Dis. 2008 Dec;31(6):729-32. doi: 10.1007/s10545-008-0919-5. Epub 2008 Aug 19. J Inherit Metab Dis. 2008. PMID: 18709545 Free PMC article.

7

Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia.

Bandsma RH, Smit GP, Reijngoud DJ, Kuipers F. Bandsma RH, et al. Among authors: smit gp. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S27-31. doi: 10.1007/s10545-009-0993-3. Epub 2009 Mar 11. J Inherit Metab Dis. 2009. PMID: 19267215

8

NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic.

Melis D, Havelaar AC, Verbeek E, Smit GP, Benedetti A, Mancini GM, Verheijen F. Melis D, et al. Among authors: smit gp. J Inherit Metab Dis. 2004;27(6):725-33. doi: 10.1023/B:BOLI.0000045755.89308.2f. J Inherit Metab Dis. 2004. PMID: 15505377

9

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham HR, Niezen-Koning KE, Wanders RJ, Rondeel JM, Loeber JG, Ten Kate LP, Smit GP, Reijngoud DJ. Derks TG, et al. Among authors: smit gp. J Inherit Metab Dis. 2008 Feb;31(1):88-96. doi: 10.1007/s10545-007-0492-3. Epub 2008 Jan 14. J Inherit Metab Dis. 2008. PMID: 18188679

10

Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

Fowler B, Schutgens RB, Rosenblatt DS, Smit GP, Lindemans J. Fowler B, et al. Among authors: smit gp. J Inherit Metab Dis. 1997 Nov;20(6):731-41. doi: 10.1023/a:1005372730310. J Inherit Metab Dis. 1997. PMID: 9427140

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