Glycogen Storage Diseases

by Terry G. J. Derks MD, PhD, Carolina Fischinger Moura de Souza MD, PhD
Published 2017-09-01

Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study

by Sarah C. Grünert, Annieke Venema, Jamas LaFreniere, Blair Schneider, Enrique Contreras, Saskia B. Wortmann, Terry G. J. Derks
Published 2023-05-01

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

by Sarah C. Grünert, Roland Elling, Bärbel Maag, Saskia B. Wortmann, Terry G. J. Derks, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Ute Spiekerkoetter
Published 2020-08-01

Continuous glucose monitoring for children with hypoglycaemia: Evidence in 2023

by Chris Worth, Chris Worth, Lucy Hoskyns, Maria Salomon-Estebanez, Paul W. Nutter, Simon Harper, Terry G.J Derks, Kathy Beardsall, Indraneel Banerjee, Indraneel Banerjee
Published 2023-01-01

Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review

by Alessandro Rossi, Alessandro Rossi, Martijn G. S. Rutten, Theo H. van Dijk, Barbara M. Bakker, Dirk-Jan Reijngoud, Maaike H. Oosterveer, Terry G. J. Derks
Published 2022-06-01

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

by Priscila Nicolao Mazzola, Tatiele Nalin, Kamila Castro, Margreet van Rijn, Terry G.J. Derks, Ingrid D.S. Perry, Alberto Scofano Mainieri, Ida Vanessa D. Schwartz
Published 2016-03-01

Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts

by Mirjam E. van Albada, Pratik Shah, Terry G. J. Derks, Sabine Fuchs, Judith J. M. Jans, Valérie McLin, Hubert P. J. van der Doef
Published 2023-08-01

Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism

by Willemijn J. van Rijt, Peter C. J. I. Schielen, Yasemin Özer, Klaas Bijsterveld, Fjodor H. van der Sluijs, Terry G. J. Derks, M. Rebecca Heiner-Fokkema
Published 2020-11-01

Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response

by Priscila Nicolao Mazzola, Bruno Costa Teixeira, Gabriel Henrique Schirmbeck, Alvaro Reischak-Oliveira, Terry G.J. Derks, Francjan J. van Spronsen, Carlos Severo Dutra-Filho, Ida Vanessa Doederlein Schwartz
Published 2015-12-01

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

by Alessandro Rossi, Erasmo Miele, Simona Fecarotta, Maria Veiga-da-Cunha, Massimo Martinelli, Carmine Mollica, Maria D’Armiento, Enza Mozzillo, Pietro Strisciuglio, Terry G. J. Derks, Annamaria Staiano, Giancarlo Parenti
Published 2021-07-01

A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient‐...

by Annieke Venema, Fabian Peeks, Marlies deBruijn‐van der Veen, Foekje deBoer, Marieke J. Fokkert‐Wilts, Charlotte M. A. Lubout, Bibi Huskens, Eric Dumont, Sandra Mulkens, Terry G. J. Derks
Published 2022-01-01

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

by Vaneisse C. L. Monteiro, Bibiana M. de Oliveira, Bruna B. dos Santos, Fernanda Sperb-Ludwig, Lilia F. Refosco, Tatiele Nalin, Terry G. J. Derks, Carolina F. Moura de Souza, Ida V. D. Schwartz
Published 2021-06-01

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots

by Allysa M. Dijkstra, Pim de Blaauw, Willemijn J. van Rijt, Hanneke Renting, Ronald G. H. J. Maatman, Francjan J. van Spronsen, Rose E. Maase, Peter C. J. I. Schielen, Terry G. J. Derks, M. Rebecca Heiner-Fokkema
Published 2023-06-01

Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients

by Christoff Odendaal, Emmalie A. Jager, Anne-Claire M. F. Martines, Marcel A. Vieira-Lara, Nicolette C. A. Huijkman, Ligia A. Kiyuna, Albert Gerding, Justina C. Wolters, Rebecca Heiner-Fokkema, Karen van Eunen, Terry G. J. Derks, Barbara M. Bakker
Published 2023-09-01

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

by Terry G. J. Derks, David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John Mitchell
Published 2021-10-01

High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia

by Martijn P.D. Haring, Fabian Peeks, Maaike H. Oosterveer, Martijn C.G.J. Brouwers, Carla E.M. Hollak, Mirian C.H. Janssen, Janneke G. Langendonk, Alexander J.M. Rennings, Margreet A.E.M. Wagenmakers, Henkjan J. Verkade, Terry G.J. Derks, Vincent E. de Meijer
Published 2022-08-01

Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a

by Matheus V. M. B. Wilke BSc, Ruben H. de Kleine MD, J. K. G. Wietasch MD, PhD, Cynthia C. A. van Amerongen BSc, Hans Blokzijl MD, PhD, Francjan J. van Spronsen MD, PhD, Ida V. D. Schwartz MD, PhD, Terry G. J. Derks MD, PhD
Published 2016-05-01

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echoc...

by Annemarijne R.J. Veenvliet, Mark R. Garrelfs, Floris E.A. Udink ten Cate, Sacha Ferdinandusse, Simone Denis, Sabine A. Fuchs, Marit Schwantje, Rosa Geurtzen, Annemiek M.J. van Wegberg, Marleen C.D.G. Huigen, Leo A.J. Kluijtmans, Ronald J.A. Wanders, Terry G.J. Derks, Lonneke de Boer, Riekelt H. Houtkooper, Maaike C. de Vries, Clara D.M. van Karnebeek
Published 2022-06-01

Hepatic Glycogen Storage Diseases

by Terry G. J. Derks MD, PhD, Antal Nemeth MD, PhD, Katrin Adrian MD, PhD, Henrik Arnell MD, PhD, Ann Bech Roskjær RD, Eva Beijer MD, Sebastiaan te Boekhorst BICT, Carina Heidenborg RD, Marcus Landgren MD ,PhD, Mikael Nilsson RD, Domniki Papadopoulou MD, Katalin Ross RD, Elisabeth Sjöqvist RD, U Stachelhaus-Theimer MD, Ulrike Steuerwald MD, Carl-Johan Törnhage MD, PhD, David A. Weinstein MD, PhD
Published 2017-09-01

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

by Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2023-10-01