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Publications

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

Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop

Type I glycogen storage disease: Straight to the point of care

Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Continuous glucose monitoring for children with hypoglycaemia: Evidence in 2023

Glycogen storage diseases

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots

Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study

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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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