Publications by authors named "Gepke Visser"

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Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.
Marit Schwantje, Marco van Brussel, Tim Takken, Monique G M de Sain-van der Velden, Mirjam Langeveld, Gepke Visser

J Inherit Metab Dis· September 2025

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Monocyte and macrophage profiles in patients with inherited long-chain fatty acid oxidation disorders.
Sanne G S Verberk, Nico Hahn, Daan Heister, Jorien Haverkamp, Khya S Snelder, Gepke Visser

Biochim Biophys Acta Mol Basis Dis· January 2025

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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Abigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, Clara D M van Karnebeek, M B Gea Kiewiet, Gepke Visser

Int J Neonatal Screen· December 2024

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Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Loek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, Eugènie Dekkers, Sabine A Fuchs, Gepke Visser

J Med Genet· November 2023

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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, Annet M Bosch, Marion M G Brands, Gepke Visser

Int J Neonatal Screen· October 2023

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A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
Lieke M van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L Crefcoeur, Gepke Visser

Orphanet J Rare Dis· June 2023

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Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.
Loek L Crefcoeur, M Rebecca Heiner-Fokkema, Rose E Maase, Gepke Visser, Monique G M de Sain-van der Velden

JIMD Rep· January 2023

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Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Marit Schwantje, Sabine A Fuchs, Lonneke de Boer, Annet M Bosch, Inge Cuppen, Gepke Visser

J Inherit Metab Dis· July 2022

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Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Marit Schwantje, Merel S Ebberink, Mirjam Doolaard, Jos P N Ruiter, Sabine A Fuchs, Gepke Visser

J Inherit Metab Dis· July 2022

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Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
Loek L Crefcoeur, Gepke Visser, Sacha Ferdinandusse, Frits A Wijburg, Mirjam Langeveld

J Inherit Metab Dis· May 2022

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Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse.
Eugène F Diekman, Michel van Weeghel, Mayte Suárez-Fariñas, Carmen Argmann, Pablo Ranea-Robles, Gepke Visser

Mol Genet Metab Rep· June 2021

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Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer.
Suzan J G Knottnerus, Dewi van Harskamp, Henk Schierbeek, Jeannette C Bleeker, Loek L Crefcoeur, Gepke Visser

Clin Nutr· March 2021

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Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Arie O Verkerk, Suzan J G Knottnerus, Vincent Portero, Jeannette C Bleeker, Sacha Ferdinandusse, Gepke Visser

Front Pharmacol· January 2021

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Neonatal carnitine concentrations in relation to gestational age and weight.
Loek L Crefcoeur, Monique G M de Sain-van der Velden, Sacha Ferdinandusse, Mirjam Langeveld, Rose Maase, Gepke Visser

JIMD Rep· November 2020

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Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Suzan J G Knottnerus, Jeannette C Bleeker, Sacha Ferdinandusse, Riekelt H Houtkooper, Mirjam Langeveld, Gepke Visser

J Inherit Metab Dis· September 2020

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Development and validation of a gas chromatography-mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasma.
Dewi van Harskamp, Suzan J G Knottnerus, Gepke Visser, Johannes B van Goudoever, Henk Schierbeek

Anal Bioanal Chem· September 2020

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Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment.
Ronald J A Wanders, Gepke Visser, Sacha Ferdinandusse, Frédéric M Vaz, Riekelt H Houtkooper

J Lipid Atheroscler· September 2020

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Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Jeannette C Bleeker, Gepke Visser, Kieran Clarke, Sacha Ferdinandusse, Ferdinand H de Haan

J Inherit Metab Dis· July 2020

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Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
Kevin Stroek, Anita Boelen, Marelle J Bouva, Monique De Sain-van der Velden, Peter C J I Schielen, Gepke Visser

JIMD Rep· July 2020

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Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Suzan J G Knottnerus, Mia L Pras-Raves, Maria van der Ham, Sacha Ferdinandusse, Riekelt H Houtkooper, Gepke Visser

Biochim Biophys Acta Mol Basis Dis· June 2020

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Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Suzan J G Knottnerus, Isabella Mengarelli, Rob C I Wüst, Antonius Baartscheer, Jeannette C Bleeker, Gepke Visser

Int J Mol Sci· April 2020

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Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.
Rosario Mosca, Diantha van de Vlekkert, Yvan Campos, Leigh E Fremuth, Jaclyn Cadaoas, Gepke Visser

J Clin Med· March 2020

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A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Emmalie A Jager, Myrthe M Kuijpers, Annet M Bosch, Margot F Mulder, Estela R Gozalbo, Gepke Visser

J Inherit Metab Dis· September 2019

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Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
Willemijn J van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, Jos P N Ruiter, Lonneke de Boer, Gepke Visser

J Inherit Metab Dis· September 2019

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Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
Marit Schwantje, Monique de Sain-van der Velden, Judith Jans, Koen van Gassen, Charlotte Dorrepaal, Gepke Visser

JIMD Rep· July 2019

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