Gepke Visser

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

Jan Peter Rake, Gepke Visser, Philippe Labrune et al. · European Journal of Pediatrics · 2002 · 323 citations

Medicine, Biochemistry, Internal Medicine +13

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Robert Kleta, Elisa Romeo, Zorica Ristic et al. · Nature Genetics · 2004 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I)

Jan Peter Rake, Gepke Visser, Philippe Labrune et al. · European Journal of Pediatrics · 2002 · 298 citations

Medicine, Biochemistry, Internal Medicine +13

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

Gepke Visser, J. P. Rake, John Fernandes et al. · The Journal of Pediatrics · 2000 · 260 citations

Medicine, Hematology, Immunology +17

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

Annet M. Bosch, N. G. G. M. Abeling, Lodewijk IJlst et al. · Journal of Inherited Metabolic Disease · 2010 · 241 citations · Full text

Life Sciences, Biochemistry, Pediatrics +17