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Publications

A prospective study on continuous glucose monitoring in glycogen storage disease type Ia: towards glycemic targets

A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures

Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands

High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

Plasma carnitine concentrations in Medium-Chain Acyl-CoA Dehydrogenase Deficiency: lessons from an observational cohort study

Serum sex hormone-binding globulin levels are reduced and inversely associated with intrahepatic lipid content and saturated fatty acid fraction in adult patients with glycogen storage disease type 1a

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

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Press/media

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

Podcast – Schepen aan de Horizon Aflevering 56 – Over metabole ziekten, met Terry Derks

ClinicalTrials.gov Identifier: NCT03011203

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