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

Publicaties

Clinical and biochemical footprints of inherited metabolic disorders: XIX. Hypoglycemia

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

Proteomics profiling of serum and liver in GSD ia and Ib patients: insights into complication mechanisms and circulation biomarkers

Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers

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

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands

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?

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