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Publicaties

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

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

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

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b

Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care

Endogenous glucose production in patients with glycogen storage disease type Ia estimated by oral d-[6,6-2H2]-glucose

Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional 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