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Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency

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

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

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

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

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

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

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

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

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

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Press/media Identifier: NCT03517085 Identifier: NCT03761693

Fasting Tolerance in MCADD-infants (FiTtINg MCADD) Identifier: NCT02318966 Identifier: NCT03011203

International Liver Glycogen Storage Disease (IGSD) Priority Setting Partnership

Retrospective international study on Betahydroxybutyrate (3-HB) in multiple acyl CoA dehydrogenase deficiency

Clinical trial: Acute Nutritional Ketosis in GSD IIIa ( Identifier: NCT03011203)

Kenniskaart GSD

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