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J P Rake

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Journal of Inherited Metabolic Disease|July 23, 2003
Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX)H M Schippers, G P A Smit, J P Rake, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Neutropenia and neutrophil dysfunction in glycogen storage disease type 1cG Visser, J Herwig, J P Rake, et al.
The Journal of Pediatrics|August 10, 2000
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type IG Visser, J P Rake, J Fernandes, et al.
European Radiology|April 28, 2005
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matterP E Sijens, K T Verbruggen, L C Meiners, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunctionD H J Martens, T W Kuijpers, N A Maianski, et al.
Journal of Inherited Metabolic Disease|September 16, 2003
Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal studyJ P Rake, G Visser, D Huismans, et al.
Journal of Inherited Metabolic Disease|September 14, 2002
Intestinal function in glycogen storage disease type IG Visser, J P Rake, F T M Kokke, et al.
European Journal of Pediatrics|June 2, 2000
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chartJ P Rake, A M ten Berge, G Visser, et al.
Human Mutation|March 29, 2000
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypesJ P Rake, A M ten Berge, G Visser, et al.
Human Mutation|March 27, 1999
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. OnlineJ P Rake, A M ten Berge, E Verlind, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Journal of Inherited Metabolic Disease|July 23, 2003
Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX)H M Schippers, G P A Smit, J P Rake, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Neutropenia and neutrophil dysfunction in glycogen storage disease type 1cG Visser, J Herwig, J P Rake, et al.
The Journal of Pediatrics|August 10, 2000
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type IG Visser, J P Rake, J Fernandes, et al.
European Radiology|April 28, 2005
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matterP E Sijens, K T Verbruggen, L C Meiners, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunctionD H J Martens, T W Kuijpers, N A Maianski, et al.
Journal of Inherited Metabolic Disease|September 16, 2003
Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal studyJ P Rake, G Visser, D Huismans, et al.
Journal of Inherited Metabolic Disease|September 14, 2002
Intestinal function in glycogen storage disease type IG Visser, J P Rake, F T M Kokke, et al.
European Journal of Pediatrics|June 2, 2000
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chartJ P Rake, A M ten Berge, G Visser, et al.
Human Mutation|March 29, 2000
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypesJ P Rake, A M ten Berge, G Visser, et al.
Human Mutation|March 27, 1999
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. OnlineJ P Rake, A M ten Berge, E Verlind, et al.
Pageof 2