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Over ons Praktische zaken Waar vindt u ons dr. T.G.J. (Terry) Derks

Publicaties

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

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?

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

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa)

State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

A specific serum lipid signature characterizes patients with glycogen storage disease type Ia

Continuous glucose monitoring metrics in people with liver glycogen storage disease and idiopathic ketotic hypoglycemia: A single-center, retrospective, observational study

Correction to Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study

Pers/media

nieuwsHet programma voor de GSD bijeenkomst is rond

JIMD Podcast

Experimentele gentherapie voor patiënten met zeer zeldzame erfelijke ziekte

Metabole ziekte met risico’s

ClinicalTrials.gov Identifier: NCT03517085

ClinicalTrials.gov Identifier: NCT03761693

Fasting Tolerance in MCADD-infants (FiTtINg MCADD)

ClinicalTrials.gov Identifier: NCT02318966