Knowledgebase
Clinical information on metabolic diseases, symptoms and laboratory findings, with references for further reading.
Explore the knowledgebaseMetagene · Knowledgebase IEM
Knowledgebase for inborn errors of metabolism
A clearer view of metabolic disease.
Bring symptoms, laboratory findings and metabolic knowledge into focus. Metagene supports clinical reasoning, research and learning.
METAGENEConnecting knowledge. Supporting care.
Diagnostic supportStart with symptoms and laboratory findings
Clinical knowledgeExplore diseases, symptoms and metabolites
Expert PanelA multidisciplinary view of complex cases
Our purpose
Complex questions. Shared knowledge.
Genetic metabolic diseases can involve many symptoms and biochemical changes. Metagene brings clinical knowledge together to help professionals consider possible explanations and deepen their understanding.
Developed through collaboration between medicine, science and information technology.
Meet the people behind MetageneClinical perspectiveSymptoms & laboratory findings
Shared expertiseMedicine, research & technology
Find your next step
One place to explore further.
Research & resources
Find specialist databases and scientific literature, with a clear explanation of what each source offers.
Browse resourcesExpert Panel
A multidisciplinary platform for discussing unresolved cases with colleagues. Registration is required.
How to participateNMR Panel
Explore a register of quantitative NMR data and PDF reports for confirmed diseases. The register is a work in progress.
Open NMR PanelFrom our research
A closer look at NMR.
NMR in Biomedicine2022
Ex vivo proton spectroscopy (¹H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses
A review of NMR analysis in the context of inborn errors of metabolism.
Read the publicationPeople behind the knowledge
Different disciplines. One shared purpose.
Doctors, scientists and technology specialists work together to make metabolic knowledge more accessible.