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Author/Creator Smit, G. Peter A.

1. A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD‐10 and SNOMED‐CT, Which Can Be Barriers to Genotype–Phenotype Data Sharing. Issue 7 (3rd June 2013)

Authors:
Sollie, Annet; Sijmons, Rolf H.; Lindhout, Dick; van der, Ans T.; Rubio Gozalbo, M. Estela; Smit, G. Peter A.; Verheijen, Frans; Waterham, Hans R.; van, Sonja; Wijburg, Frits A.; Wijburg, Rudolph; Visser, Gepke
Journal:
Human mutation
Issue:
Volume 34:Issue 7(2013:Jul.)
Page Start:
967
Record Type:
Journal Article
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3. Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases. Issue 5 (20th May 2015)

Authors:
Nalin, Tatiéle; Venema, Koen; Weinstein, David A.; de Souza, Carolina F. M; Perry, Ingrid D. S.; van Wandelen, Mario T. R.; van Rijn, Margreet; Smit, G. Peter A.; Schwartz, Ida V. D.; Derks, Terry G. J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 5(2015)
Page Start:
987
Record Type:
Journal Article
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4. Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium‐chain acyl‐CoA dehydrogenase deficiency. Issue 5 (13th March 2014)

Authors:
Derks, Terry G. J.; Touw, Catharina M. L.; Ribas, Graziela S.; Biancini, Giovana B.; Vanzin, Camila S.; Negretto, Giovanna; Mescka, Caroline P.; Reijngoud, Dirk Jan; Smit, G. Peter A.; Wajner, Moacir; Vargas, Carmen R.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 5(2014)
Page Start:
783
Record Type:
Journal Article
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5. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. Issue 5 (22nd April 2016)

Authors:
Sentner, Christiaan P.; Hoogeveen, Irene J.; Weinstein, David A.; Santer, René; Murphy, Elaine; McKiernan, Patrick J.; Steuerwald, Ulrike; Beauchamp, Nicholas J.; Taybert, Joanna; Laforêt, Pascal; Petit, François M.; Hubert, Aurélie; Labrune, Philippe; Smit, G. Peter A.; Derks, Terry G. J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
697
Record Type:
Journal Article
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6. In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases. Issue 3 (16th September 2014)

Authors:
Nalin, Tatiéle; Venema, Koen; Weinstein, David A.; de Souza, Carolina F. M; Perry, Ingrid D. S.; van Wandelen, Mario T. R.; van Rijn, Margreet; Smit, G. Peter A.; Schwartz, Ida V. D.; Derks, Terry G. J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 3(2015)
Page Start:
529
Record Type:
Journal Article
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7. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross‐sectional national survey. Issue 2 (22nd July 2014)

Authors:
Brands, Marion M. G.; Güngör, Deniz; den van Hout, Johanna M. P.; Karstens, Francois P. J.; Oussoren, Esmee; Plug, Iris; Boelens, Jaap Jan; van Hasselt, Peter M.; Hollak, Carla E. M.; Mulder, Margot F.; Gozalbo, Estela Rubio; Smeitink, Jan A.; Smit, G. Peter A.; Wijburg, Frits A.; Meutgeert, Hank...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 2(2015)
Page Start:
323
Record Type:
Journal Article
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