Rake JP - 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: rake jp. 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

Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).

Kuijpers TW, Maianski NA, Tool AT, Smit GP, Rake JP, Roos D, Visser G. Kuijpers TW, et al. Among authors: rake jp. Blood. 2003 Jun 15;101(12):5021-4. doi: 10.1182/blood-2002-10-3128. Epub 2003 Feb 6. Blood. 2003. PMID: 12576310 Free article.

3

Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c.

Visser G, Herwig J, Rake JP, Niezen-Koning KE, Verhoeven AJ, Smit GP. Visser G, et al. Among authors: rake jp. J Inherit Metab Dis. 1998 Jun;21(3):227-31. doi: 10.1023/a:1005399602020. J Inherit Metab Dis. 1998. PMID: 9686363 No abstract available.

4

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H. Rake JP, et al. Hum Mutat. 2000 Apr;15(4):381. doi: 10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU13>3.0.CO;2-K. Hum Mutat. 2000. PMID: 10737986

5

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H. Rake JP, et al. Eur J Pediatr. 2000 May;159(5):322-30. doi: 10.1007/s004310051281. Eur J Pediatr. 2000. PMID: 10834516 Review.

6

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.

Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, Ullrich K, Smit GP. Visser G, et al. Among authors: rake jp. J Pediatr. 2000 Aug;137(2):187-91. doi: 10.1067/mpd.2000.105232. J Pediatr. 2000. PMID: 10931410

7

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: rake jp. J Inherit Metab Dis. 2002 Aug;25(4):261-7. doi: 10.1023/a:1016572706488. J Inherit Metab Dis. 2002. PMID: 12227456 Clinical Trial.

8

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: rake jp. J Inherit Metab Dis. 2003;26(1):43-7. doi: 10.1023/a:1024071328772. J Inherit Metab Dis. 2003. PMID: 12872839

9

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. J Inherit Metab Dis. 2003;26(4):371-84. doi: 10.1023/a:1025111220095. J Inherit Metab Dis. 2003. PMID: 12971425

10

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Rake JP, et al. Eur J Pediatr. 2002 Oct;161 Suppl 1:S20-34. doi: 10.1007/s00431-002-0999-4. Epub 2002 Aug 22. Eur J Pediatr. 2002. PMID: 12373567

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