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Neurological impairment of disorders of purines & pyrimidines
Purines and pyrimidines are essential molecules that are components of vital biomolecules, such as nucleic acids, signalling molecules, coenzymes, as well as energy transfer molecules. This lecture provides an overview of neurological impairment pertaining inborn errors of metabolism of purines & pyrimidines. The clinical spectrum of these disorders is broad, including psychomotor retardation, epilepsy, hypotonia, or microcephaly; sensory involvement, such as deafness and visual disturbances; multiple malformations, as well as muscle presentations. Clinical signs are often nonspecific and, thus, these diseases overlooked. This is likely to be gradually overcome by using sensitive biochemical investigations and next-generation sequencing technologies. Some of these disorders require specific treatments.

Apr 12, 2023 04:00 PM in London

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Speakers

Ming Lim
Dr @Evelina London Children´s Hospital, United Kingdom
EPNS Board member. Dr Lim has a major interest in childhood inflammatory disorders and run the nationally commissioned highly specialist paediatric brain and spine inflammation service. He works collaboratively with European and International colleagues on numerous studies to define childhood central nervous system autoimmune disorders. Well published in the field of childhood CNS autoimmunity. In addition has a research interest in the inflammatory mechanisms in childhood onset neurodegenerative disorders; and works on projects to evaluate the beneficial role of treating inflammation in childhood neurodegeneration.
Marie-Cécile Nassogne
MC @Service de neurologie pédiatrique. Cliniques Universitaires Saint-Luc (CUSL) – UCLouvain, Bruxelles, Belgium
MC Nassogne graduated from the Faculty of Medicine of the UCLouvain. She obtained her doctoral thesis for her work on the effects of cocaine on the developing brain. She continued her training in neurology and then in paediatric neurology in the paediatric neurology department of Cliniques Universitaires Saint-Luc. She then completed a three-year fellowship in the Department of Paediatric Neurology and Hereditary Metabolic Diseases of Professor Jean-Marie Saudubray at the Necker Enfants Malades Hospital in Paris. MC Nassogne is head of the paediatric neurology department at Cliniques Universitaires Saint-Luc and professor of paediatric neurology at UCLouvain. She coordinates the multidisciplinary team taking care of children with hereditary metabolic diseases.

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