This agenda below is subject to updates.

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Session Agenda - SSIEM Adult Metabolic Group meeting

Plane Auditorium | Level 0
(open to all participants)

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08:30 - 10:00 | Impact of NGS on Adult Metabolic Medicine

08:30 - 08:35 | Short introduction to the session

Fanny Mochel (Paris, France)

Mirjam Langeveld (Amsterdam, The Netherlands)

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08:35 - 08:50 | Example of carnitine transporter deficiency

Mirjam Langeveld (Amsterdam, The Netherlands)

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08:50 - 09:05 | Example of X-linked adrenoleukodystrophy

Fanny Mochel (Paris, France)

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09:05 - 09:20 | Example of OTC deficiency

Pasi Nevalainen (Tampere, Finland)

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09:20 - 09:35 | Example of Fabry disease

Kasper W. ter Horst (Amsterdam, The Netherlands)

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09:35 - 10:00 | Impact of pre-conceptional NGS

Noelia Nunez Martinez (Canberra, Australia)

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Open debate:

10:00 - 10:30 | Moderators: Fanny Mochel (Paris, France)

Mirjam Langeveld (Amsterdam, The Netherlands)