Gepke A. Visser
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 92 publications
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Journal: Journal of inherited metabolic disease
Published: July 15, 2025
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.
Journal: Journal of inherited metabolic disease
Published: March 22, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Journal: International journal of neonatal screening
Published: October 14, 2024
Monocyte and macrophage profiles in patients with inherited long-chain fatty acid oxidation disorders.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: April 09, 2024
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Journal: International journal of neonatal screening
Published: September 10, 2023
Re: Birth-weight centile at term and school performance at 12 years of age: linked cohort study.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: April 11, 2023
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Journal: Journal of medical genetics
Published: February 26, 2023
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
Journal: Orphanet journal of rare diseases
Published: December 09, 2022
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.
Journal: JIMD reports
Published: August 24, 2022
Antenatal corticosteroids and perinatal outcome in late fetal growth restriction: analysis of prospective cohort.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: July 14, 2022
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Journal: Journal of inherited metabolic disease
Published: February 04, 2022
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Journal: Journal of inherited metabolic disease
Published: January 31, 2022
Last Updated: 09/26/2026