Metabolism, inborn errors - Open Access .click

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2013
Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances.
Nadia Bahi-Buisson, Olivier Dulac
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Human medicines European public assessment report (EPAR): Ucedane, carglumic acid, Hyperammonemia,Amino Acid Metabolism, Inborn Errors, Date of authorisation: 23/06/2017, Revision: 2, Status: Authorised

Case Medical Research, 2019

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Inborn Errors of Biotin Metabolism

Archives of Dermatology, 1987
The important role of biotin in human physiology has been highlighted by the recognition of two newly discovered human inborn errors of the metabolism of biotin. The molecular defect in the neonatal-onset disease is in the enzyme holocarboxylase synthetase. The defect in the later infantile-onset disease is in the enzyme biotinidase.
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Inborn errors of metabolism