Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
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.
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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Journal Article
Dietary management in glycogen storage disease type III: what is the evidence?
Derks, Terry G. J., Smit, G. Peter A.
Published in Journal of inherited metabolic disease (01.05.2015)
Published in Journal of inherited metabolic disease (01.05.2015)
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Journal Article
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, Jan Peter, Visser, Gepke, Labrune, Philippe, Leonard, James V, Ullrich, Kurt, Smit, G Peter A
Published in European journal of pediatrics (01.10.2002)
Published in European journal of pediatrics (01.10.2002)
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Journal Article
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I
Calderaro, Julien, Labrune, Philippe, Morcrette, Guillaume, Rebouissou, Sandra, Franco, Dominique, Prévot, Sophie, Quaglia, Alberto, Bedossa, Pierre, Libbrecht, Louis, Terracciano, Luigi, Smit, G. Peter A, Bioulac-Sage, Paulette, Zucman-Rossi, Jessica
Published in Journal of hepatology (01.02.2013)
Published in Journal of hepatology (01.02.2013)
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Journal Article
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency
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.
Published in Journal of inherited metabolic disease (01.09.2014)
Published in Journal of inherited metabolic disease (01.09.2014)
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The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome
Derks, Terry G.J., Reijngoud, Dirk-Jan, Waterham, Hans R., Gerver, Willem-Jan M., van den Berg, Maarten P., Sauer, Pieter J.J., Smit, G. Peter A.
Published in The Journal of pediatrics (01.05.2006)
Published in The Journal of pediatrics (01.05.2006)
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Journal Article
Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients
Visser, Gepke, de Jager, Wilco, Verhagen, Liesbeth P., Smit, G. Peter A., Wijburg, Frits A., Prakken, Berent J., Coffer, Paul J., Buitenhuis, Miranda
Published in Journal of inherited metabolic disease (01.03.2012)
Published in Journal of inherited metabolic disease (01.03.2012)
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Journal Article
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene
Ebberink, Merel S, Koster, Janet, Visser, Gepke, Spronsen, Francjan van, Stolte-Dijkstra, Irene, Smit, G Peter A, Fock, Johanna M, Kemp, Stephan, Wanders, Ronald J A, Waterham, Hans R
Published in Journal of medical genetics (01.05.2012)
Published in Journal of medical genetics (01.05.2012)
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Journal Article
Cost-Effectiveness of Neonatal Screening for Medium Chain acyl-CoA Dehydrogenase Deficiency: The Homogeneous Population of the Netherlands
van der Hilst, Christian S., MSc, Derks, Terry G.J., MD, PhD, Reijngoud, Dirk-Jan, PhD, Smit, G. Peter A., MD, PhD, TenVergert, Elisabeth M., PhD
Published in The Journal of pediatrics (01.08.2007)
Published in The Journal of pediatrics (01.08.2007)
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Journal Article
Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III
Verbeek, Renate J, Sentner, Christiaan P, Smit, G. Peter A, Maurits, Natasha M, Derks, Terry G.J, van der Hoeven, Johannes H, Sival, Deborah A
Published in Ultrasound in medicine & biology (2016)
Published in Ultrasound in medicine & biology (2016)
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Journal Article
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
van den Hout, Hannerieke M P, Hop, Wim, van Diggelen, Otto P, Smeitink, Jan A M, Smit, G Peter A, Poll-The, Bwee-Tien T, Bakker, Henk D, Loonen, M Christa B, de Klerk, Johannis B C, Reuser, Arnold J J, van der Ploeg, Ans T
Published in Pediatrics (Evanston) (01.08.2003)
Published in Pediatrics (Evanston) (01.08.2003)
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Journal Article
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib
Correia, Catherine E, Bhattacharya, Kaustuv, Lee, Philip J, Shuster, Jonathan J, Theriaque, Douglas W, Shankar, Meena N, Smit, G. Peter A, Weinstein, David A
Published in The American journal of clinical nutrition (01.11.2008)
Published in The American journal of clinical nutrition (01.11.2008)
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Journal Article
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey
Brands, Marion M. G., Güngör, Deniz, van den 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, Hanka, van der Ploeg, Ans T.
Published in Journal of inherited metabolic disease (01.03.2015)
Published in Journal of inherited metabolic disease (01.03.2015)
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Journal Article
In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases
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.
Published in Journal of inherited metabolic disease (01.05.2015)
Published in Journal of inherited metabolic disease (01.05.2015)
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Journal Article
Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition
Martens, Daniëlle H J, Rake, Jan Peter, Navis, Gerjan, Fidler, Vaclav, van Dael, Catharina M L, Smit, G Peter A
Published in Clinical journal of the American Society of Nephrology (01.11.2009)
Published in Clinical journal of the American Society of Nephrology (01.11.2009)
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Journal Article
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)
Kuijpers, Taco W., Maianski, Nikolai A., Tool, Anton T.J., Smit, G. Peter A., Rake, Jan Peter, Roos, Dirk, Visser, Gepke
Published in Blood (15.06.2003)
Published in Blood (15.06.2003)
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Journal Article
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
Touw, Catharina M L, Smit, G Peter A, Niezen-Koning, Klary E, Bosgraaf-de Boer, Conny, Gerding, Albert, Reijngoud, Dirk-Jan, Derks, Terry G J
Published in Orphanet journal of rare diseases (20.03.2013)
Published in Orphanet journal of rare diseases (20.03.2013)
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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
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.
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
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Journal Article
Disturbed hepatic carbohydrate management during high metabolic demand in medium‐chain acyl–CoA dehydrogenase (MCAD)–deficient mice
Herrema, Hilde, Derks, Terry G. J., van Dijk, Theo H., Bloks, Vincent W., Gerding, Albert, Havinga, Rick, Tietge, Uwe J. F., Müller, Michael, Smit, G. Peter A., Kuipers, Folkert, Reijngoud, Dirk‐Jan
Published in Hepatology (Baltimore, Md.) (01.06.2008)
Published in Hepatology (Baltimore, Md.) (01.06.2008)
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