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University of Groningenfounded in 1614  -  top 100 university
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Publications

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey

A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles

Author Correction: PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia

Idiopathic pathological ketotic hypoglycemia: finding the needle in a haystack

iPSC-Derived Liver Organoids as a Tool to Study Medium Chain Acyl-CoA Dehydrogenase Deficiency

Is the Proof of the Pudding in the Fasting When It Comes to Rare Inherited Mitochondrial Fatty Acid Oxidation Disorders?

Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability

Person-centered outcomes for liver glycogen storage diseases: development of an international consensus-based standard outcome set

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia

Press/media

Het programma voor de GSD bijeenkomst is rond

JIMD Podcast

Experimentele gentherapie voor patiënten met zeer zeldzame erfelijke ziekte

GSD 1b - Dr Terry Derks - A Podcast on GSD, symptoms, treatments & what daily life looks like

Metabole ziekte met risico’s

ClinicalTrials.gov Identifier: NCT03517085

ClinicalTrials.gov Identifier: NCT03761693

Fasting Tolerance in MCADD-infants (FiTtINg MCADD)

ClinicalTrials.gov Identifier: NCT02318966