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
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib
Grünert, Sarah C, Elling, Roland, Maag, Bärbel, Wortmann, Saskia B, Derks, Terry G. J, Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Spiekerkoetter, Ute
Published in Orphanet journal of rare diseases (24.08.2020)
Published in Orphanet journal of rare diseases (24.08.2020)
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Journal Article
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
Rossi, Alessandro, Miele, Erasmo, Fecarotta, Simona, Veiga-da-Cunha, Maria, Martinelli, Massimo, Mollica, Carmine, D'Armiento, Maria, Mozzillo, Enza, Strisciuglio, Pietro, Derks, Terry G J, Staiano, Annamaria, Parenti, Giancarlo
Published in Italian journal of pediatrics (02.07.2021)
Published in Italian journal of pediatrics (02.07.2021)
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Journal Article
Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients
Odendaal, Christoff, Jager, Emmalie A, Martines, Anne-Claire M. F, Vieira-Lara, Marcel A, Huijkman, Nicolette C. A, Kiyuna, Ligia A, Gerding, Albert, Wolters, Justina C, Heiner-Fokkema, Rebecca, van Eunen, Karen, Derks, Terry G. J, Bakker, Barbara M
Published in BMC biology (04.09.2023)
Published in BMC biology (04.09.2023)
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Journal Article
Mutations in RARS cause hypomyelination
Wolf, Nicole I., Salomons, Gajja S., Rodenburg, Richard J., Pouwels, Petra J. W., Schieving, Jolanda H., Derks, Terry G. J., Fock, Johanna M., Rump, Patrick, van Beek, Daphne M., van der Knaap, Marjo S., Waisfisz, Quinten
Published in Annals of neurology (01.07.2014)
Published in Annals of neurology (01.07.2014)
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Journal Article
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children
Brown, Laurie M., Corrado, Michelle M., van der Ende, Rixt M., Derks, Terry G. J., Chen, Margaret A., Siegel, Sara, Hoyt, Kate, Correia, Catherine E., Lumpkin, Christopher, Flanagan, Theresa B., Carreras, Caroline T., Weinstein, David 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
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia
Monteiro, Vaneisse C L, de Oliveira, Bibiana M, Dos Santos, Bruna B, Sperb-Ludwig, Fernanda, Refosco, Lilia F, Nalin, Tatiele, Derks, Terry G J, Moura de Souza, Carolina F, Schwartz, Ida V D
Published in Orphanet journal of rare diseases (03.06.2021)
Published in Orphanet journal of rare diseases (03.06.2021)
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Journal Article
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
Dijkstra, Allysa M, de Blaauw, Pim, van Rijt, Willemijn J, Renting, Hanneke, Maatman, Ronald G H J, van Spronsen, Francjan J, Maase, Rose E, Schielen, Peter C J I, Derks, Terry G J, Heiner-Fokkema, M Rebecca
Published in International journal of neonatal screening (21.06.2023)
Published in International journal of neonatal screening (21.06.2023)
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Journal Article
A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets
Rossi, Alessandro, Venema, Annieke, Haarsma, Petra, Feldbrugge, Lude, Burghard, Rob, Rodriguez-Buritica, David, Parenti, Giancarlo, Oosterveer, Maaike H, Derks, Terry G J
Published in The journal of clinical endocrinology and metabolism (01.09.2022)
Published in The journal of clinical endocrinology and metabolism (01.09.2022)
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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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Journal Article
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs
Derks, Terry G J, Rodriguez-Buritica, David F, Ahmad, Ayesha, de Boer, Foekje, Couce, María L, Grünert, Sarah C, Labrune, Philippe, López Maldonado, Nerea, Fischinger Moura de Souza, Carolina, Riba-Wolman, Rebecca, Rossi, Alessandro, Saavedra, Heather, Gupta, Rupal Naik, Valayannopoulos, Vassili, Mitchell, John
Published in Nutrients (27.10.2021)
Published in Nutrients (27.10.2021)
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Journal Article
The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases
Heiner-Fokkema, M Rebecca, van der Krogt, Jennifer, de Boer, Foekje, Fokkert-Wilts, Marieke J, Maatman, Ronald G H J, Hoogeveen, Irene J, Derks, Terry G J
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Journal Article
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Touw, Catharina M L, Smit, G Peter A, de Vries, Maaike, de Klerk, Johannis B C, Bosch, Annet M, Visser, Gepke, Mulder, Margot F, Rubio-Gozalbo, M Estela, Elvers, Bert, Niezen-Koning, Klary E, Wanders, Ronald J A, Waterham, Hans R, Reijngoud, Dirk-Jan, Derks, Terry G J
Published in Orphanet journal of rare diseases (25.05.2012)
Published in Orphanet journal of rare diseases (25.05.2012)
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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
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
van Rijt, Willemijn J, Jager, Emmalie A, Allersma, Derk P, Aktuğlu Zeybek, A Çiğdem, Bhattacharya, Kaustuv, Debray, François-Guillaume, Ellaway, Carolyn J, Gautschi, Matthias, Geraghty, Michael T, Gil-Ortega, David, Larson, Austin A, Moore, Francesca, Morava, Eva, Morris, Andrew A, Oishi, Kimihiko, Schiff, Manuel, Scholl-Bürgi, Sabine, Tchan, Michel C, Vockley, Jerry, Witters, Peter, Wortmann, Saskia B, van Spronsen, Francjan, Van Hove, Johan L K, Derks, Terry G J
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Journal Article
Web Resource
Glycogen storage diseases
Hannah, William B., Derks, Terry G. J., Drumm, Mitchell L., Grünert, Sarah C., Kishnani, Priya S., Vissing, John
Published in Nature reviews. Disease primers (07.09.2023)
Published in Nature reviews. Disease primers (07.09.2023)
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Journal Article
Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts
van Albada, Mirjam E., Shah, Pratik, Derks, Terry G. J., Fuchs, Sabine, Jans, Judith J. M., McLin, Valérie, van der Doef, Hubert P. J.
Published in Frontiers in endocrinology (Lausanne) (18.08.2023)
Published in Frontiers in endocrinology (Lausanne) (18.08.2023)
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Journal Article
Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review
Rossi, Alessandro, Rutten, Martijn G. S., van Dijk, Theo H., Bakker, Barbara M., Reijngoud, Dirk-Jan, Oosterveer, Maaike H., Derks, Terry G. J.
Published in Frontiers in endocrinology (Lausanne) (17.06.2022)
Published in Frontiers in endocrinology (Lausanne) (17.06.2022)
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Journal Article
Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
Rijt, Willemijn J., Ferdinandusse, Sacha, Giannopoulos, Panagiotis, Ruiter, Jos P. N., Boer, Lonneke, Bosch, Annet M., Huidekoper, Hidde H., Rubio‐Gozalbo, M. Estela, Visser, Gepke, Williams, Monique, Wanders, Ronald J. A., Derks, Terry G. J.
Published in Journal of inherited metabolic disease (01.09.2019)
Published in Journal of inherited metabolic disease (01.09.2019)
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Journal Article