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Rijksuniversiteit Groningenfounded in 1614  -  top 100 university
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Publicaties

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

Is the Proof of the Pudding in the Fasting When It Comes to Rare Inherited Mitochondrial Fatty Acid Oxidation Disorders?

Person-centered outcomes for liver glycogen storage diseases: development of an international consensus-based standard outcome set

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

Too Early to Tell?: Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral

Urinary tetraglucoside excretion as a biomarker in liver glycogen storage diseases

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