Emma CPM
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    • FOCUS DISEASES:
    • Metabolic diseases
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Highlighted scientific publications

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
Development of the Dutch translational knowledge agenda for inherited metabolic diseases
Human pluripotent stem cell-derived microglia shape neuronal morphology and enhance network activity in vitro
A complete overview of our scientific publications can be found here

Highlighted research grants

‘Effectiveness of nicotinamide riboside in Barth syndrome’
granted by United for Metabolic Diseases
‘Unraveling the energy imbalance in Bardet-Biedl syndrome’
granted by WAR Stichting Steun Emma
‘The role of EGF signaling in astrocyte-neuron interactions in TSC’
granted by TSC Alliance

The Emma CPM is a center of expertise at the Amsterdam UMC focusing on patients and families with a rare genetic disorder.

A collaboration between the Emma Children's Hospital, the Department of Human Genetics, the Laboratory of Genetic Metabolic Diseases, and various departments and laboratories.

Application form therapy clinic
ECPM Interactive Toolbox
CRISPR Q&A clinic
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