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Publications by Gepke Visser

Effectiveness of Whole-Exome Sequencing and Costs of the Traditional Diagnostic Trajectory in Children With Intellectual Disability

Genetics in Medicine
MedicineGenetics
2016English

Fatty Acid Oxidation Flux Predicts the Clinical Severity of VLCAD Deficiency

Genetics in Medicine
MedicineGenetics
2015English

Proposal for an Individualized Dietary Strategy in Patients With Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Journal of Inherited Metabolic Disease
Genetics
2018English

Proposal for an Individualized Dietary Strategy in Patients With Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Journal of Inherited Metabolic Disease
Genetics
2019English

Impaired Cognitive Functioning in Patients With Tyrosinemia Type I Receiving Nitisinone

Journal of Pediatrics
Child HealthPediatricsPerinatology
2014English

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

PLoS ONE
Multidisciplinary
2015English

Genetic Defect of the Sodium‐dependent Multivitamin Transporter: A Treatable Disease, Mimicking Biotinidase Deficiency

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2019English

Increased Lipogenesis and Resistance of Lipoproteins to Oxidative Modification in Two Patients With Glycogen Storage Disease Type 1a

Journal of Pediatrics
Child HealthPediatricsPerinatology
2002English

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