Terry G J Derks

Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: An investigator-initiated, randomized, crossover study.

Authors:

Irene J Hoogeveen Foekje de Boer Willemijn F Boonstra Caroline J van der Schaaf Ulrike Steuerwald Anita J Sibeijn-Kuiper Riemer J K Vegter Johannes H van der Hoeven M Rebecca Heiner-Fokkema Kieran C Clarke Pete J Cox Terry G J Derks Jeroen A L Jeneson

J Inherit Metab Dis 2020 Aug 16. Epub 2020 Aug 16.

Neuroimaging Center, Department of Neuroscience, University Medical Center Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

August 2020

The potential of dietary treatment in patients with glycogen storage disease type IV.

Authors:

Terry G J Derks Fabian Peeks Foekje de Boer Marieke Fokkert-Wilts Hubert P J van der Doef Marius C van den Heuvel Edyta Szymańska Dariusz Rokicki Patrick T Ryan David A Weinstein

J Inherit Metab Dis 2020 Dec 17. Epub 2020 Dec 17.

Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut, USA.

View Article and Find Full Text PDF

December 2020

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

Authors:

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

Int J Neonatal Screen 2020 Nov 2;6(4). Epub 2020 Nov 2.

Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.

View Article and Find Full Text PDF

November 2020

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

Authors:

Sarah C Grünert Roland Elling Bärbel Maag Saskia B Wortmann Terry G J Derks Luciana Hannibal Anke Schumann Stefanie Rosenbaum-Fabian Ute Spiekerkoetter

Orphanet J Rare Dis 2020 08 24;15(1):218. Epub 2020 Aug 24.

Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre- University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.

View Article and Find Full Text PDF

August 2020

The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases.

Authors:

M Rebecca Heiner-Fokkema Jennifer van der Krogt Foekje de Boer Marieke J Fokkert-Wilts Ronald G H J Maatman Irene J Hoogeveen Terry G J Derks

Genet Med 2020 Nov 13;22(11):1915-1916. Epub 2020 Jul 13.

Beatrix Children's Hospital, Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

November 2020

Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.

Authors:

Saskia B Wortmann Johan L K Van Hove Terry G J Derks Nathalie Chevalier Vijaya Knight Andreas Koller Esmee Oussoren Johannes A Mayr Francjan J van Spronsen Florian B Lagler Sommer Gaughan Emile Van Schaftingen Maria Veiga-da-Cunha

Blood 2020 Aug;136(9):1033-1043

Groupe de Recherches Metaboliques, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.

View Article and Find Full Text PDF

August 2020

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

J Inherit Metab Dis 2020 07 26;43(4):770-777. Epub 2020 Feb 26.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

July 2020

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

Genet Med 2020 05 6;22(5):908-916. Epub 2020 Jan 6.

Section of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.

View Article and Find Full Text PDF

May 2020

Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels.

Authors:

Ali Saeed Joanne A Hoogerland Hanna Wessel Janette Heegsma Terry G J Derks Eveline van der Veer Gilles Mithieux Fabienne Rajas Maaike H Oosterveer Klaas Nico Faber

Hum Mol Genet 2020 01;29(2):264-273

Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

January 2020

Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD in medium-chain acyl-CoA dehydrogenase knockout mice.

Authors:

Anne-Claire M F Martines Albert Gerding Sarah Stolle Marcel A Vieira-Lara Justina C Wolters Angelika Jurdzinski Laura Bongiovanni Alain de Bruin Pieter van der Vlies Gerben van der Vries Vincent W Bloks Terry G J Derks Dirk-Jan Reijngoud Barbara M Bakker

Sci Rep 2019 10 10;9(1):14539. Epub 2019 Oct 10.

Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

October 2019

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance.

Authors:

Fabian Peeks Willemijn F Boonstra Lut de Baere Camilla Carøe Thomas Casswall Damián Cohen Katherine Cowan Iris Ferrecchia Alberto Ferriani Caroline Gimbert Marcus Landgren Nerea L Maldonado Jason McMillan Antal Nemeth Niccolò Seidita Ute Stachelhaus-Theimer David A Weinstein Terry G J Derks

J Inherit Metab Dis 2020 03 13;43(2):279-289. Epub 2019 Nov 13.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

March 2020

Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.

Authors:

Jerry Vockley Steven F Dobrowolski Georgianne L Arnold Ruben Bonilla Guerrero Terry G J Derks David A Weinstein

Mol Genet Metab 2019 Sep - Oct;128(1-2):1-9. Epub 2019 Jul 19.

Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT 06030, United States of America; GSD Program, Connecticut Children's Medical Center, Hartford, CT 06106, United States of America.

View Article and Find Full Text PDF

April 2020

Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.

Authors:

Willemijn J van Rijt Rixt M van der Ende Catharina M L Volker-Touw Francjan van Spronsen Terry G J Derks M Rebecca Heiner-Fokkema

Mol Genet Metab 2019 08 28;127(4):327-335. Epub 2019 Jun 28.

University of Groningen, University Medical Center Groningen, Laboratory of Metabolic Diseases, Department of Laboratory Medicine, Groningen, The Netherlands. Electronic address:

View Article and Find Full Text PDF

August 2019

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

Authors:

Willemijn J van Rijt Sacha Ferdinandusse Panagiotis Giannopoulos Jos P N Ruiter Lonneke de Boer Annet M Bosch Hidde H Huidekoper M Estela Rubio-Gozalbo Gepke Visser Monique Williams Ronald J A Wanders Terry G J Derks

J Inherit Metab Dis 2019 09 17;42(5):878-889. Epub 2019 Jul 17.

Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

View Article and Find Full Text PDF

September 2019

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

Authors:

Emmalie A Jager Myrthe M Kuijpers Annet M Bosch Margot F Mulder Estela R Gozalbo Gepke Visser Maaike de Vries Monique Williams Hans R Waterham Francjan J van Spronsen Peter C J I Schielen Terry G J Derks

J Inherit Metab Dis 2019 09 16;42(5):890-897. Epub 2019 May 16.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

September 2019

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.

Authors:

Anouk Kuiper Stephanie Grünewald Elaine Murphy Maraike A Coenen Hendriekje Eggink Rodi Zutt Maria E Rubio-Gozalbo Annet M Bosch Monique Williams Terry G J Derks Robin H L Lachmann Martijn C G J Brouwers Mirian C H Janssen Marina A Tijssen Tom J de Koning

J Inherit Metab Dis 2019 05 27;42(3):451-458. Epub 2019 Feb 27.

Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

May 2019

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

J Inherit Metab Dis 2019 05 8;42(3):414-423. Epub 2019 Apr 8.

Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article and Find Full Text PDF

May 2019

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Authors:

Jeannette C Bleeker Irene L Kok Sacha Ferdinandusse Maaike de Vries Terry G J Derks Margot F Mulder Monique Williams Estela Rubio Gozalbo Annet M Bosch Dorine T van den Hurk Monique G M de Sain-van der Velden Hans R Waterham Frits A Wijburg Gepke Visser

J Inherit Metab Dis 2019 01;42(1):159-168

Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital (UMCU), University Medical Center Utrecht, Internal Mail KE 04.306.0, PO Box 85090 3508 AB, Utrecht, Netherlands.

View Article and Find Full Text PDF

January 2019