|
| | 14:00 | Classifications of metabolic disorders
Jean-Marie Saudubray, Paris
|
|
| | 14:45 | Discussion
|
|
| | 15:00 | A clinical approach to neuro-metabolic disorders in adult neurology
Frédéric Sedel, Paris
|
|
| | 15:30 | Discussion
|
|
| | 15:45 | Coffee break
|
|
| | 16:15 | IEM in adults – Biochemical approach
Ries Duran, Amsterdam
|
|
| | 16:45 | Discussion
|
|
| | 17:00 | IEM : Molecular basis
Johannes Zschocke, Innsbruck
|
|
| | 17:30 | Discussion
|
|
| | 17:45 | Case studies
|
|
| | 18:00 | Discussion
|
|
| | 19:30 | Welcome dinner
|
| |
|
| | 08:30 | Management of transfer and diet
Elaine Murphy, London
|
|
| | 09:00 | Discussion
|
|
| | 09:15 | Galactosemia and Glycogenosis
John Walter, Manchester
|
|
| | 09:45 | Discussion
|
|
| | 10:00 | Coffee break
|
|
| | 10:30 | Phenylketonuria
Robin Lachmann, London
|
|
| | 11:00 | Discussion
|
|
| | 11:15 | Urea Cycle defects
François Maillot, Tours
|
|
| | 11:45 | Discussion
|
|
| | 12:00 | Homocystinuria
Hélène Ogier, Paris
|
|
| | 12:30 | Discussion
|
|
| | 12:45 | Lunch
|
|
| | 14:00 | WORKSHOPS I
A – Coma, emergencies
François Maillot, Robin Lachmann
B – Laboratory investigations (Amino acids, organic acids)
Ries Duran, Daniel Rabier
Free evening
|
| |
|
| | 08:30 | Mitochondrial disorders
Shamima Rahman, London
|
|
| | 09:00 | Discussion
|
|
| | 09:15 | Metabolic myopathies
Pascal Laforêt, Paris
|
|
| | 09:45 | Discussion
|
|
| | 10:00 | Peroxisomal disorders
Patrick Aubourg, Paris
|
|
| | 10:30 | Discussion
|
|
| | 10:45 | Coffee break
|
|
| | 11:15 | Gaucher and Fabry diseases
Carla Hollak, Amsterdam
|
|
| | 11:45 | Discussion
|
|
| | 12:00 | Wilson’s disease
France Woimant, Paris
|
|
| | 12:30 | Discussion
|
|
| | 12:45 | Lunch
|
|
| | 14:00 | WORKSHOPS II : IEM in internal medicine and neurology
A – Visceral systemic manifestations
Carla Hollak, Joost Frenkel, Olivier Lidove
B – Neurological presentations (Movement disorders, leucodystrophies, polyneuropathies & porphyrias)
Frédéric Sedel, Mark Edwards
|
|
| | 20:00 | Dinner
|
| |
|
| | 08:30 | Ophtalmology
Elizabeth Graham, London
|
|
| | 09:00 | Discussion
|
|
| | 09:15 | Cardiology
Perry Elliott, London
|
|
| | 09:45 | Discussion
|
|
| | 10:00 | Coffee break
|
|
| | 10:30 | Endocrinology
Claire Douillard, Lille
|
|
| | 11:00 | Discussion
|
|
| | 11:15 | Psycho-social issues for adults with IEM
Peter Burgard, Heidelberg
|
|
| | 11:45 | Discussion
|
|
| | 12:00 | Course examination
|
|
| | 12:45 | Conclusions
Frédéric Sedel and Samantha Parker, Paris
|
|
| | 13:00 | Lunch
Departure
|
| |