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Inborn Diseases of Metabolism Affecting Brain Development

Organizer: Olivier Braissant

1 ECTS

DATES
The course will take place on the following dates, from 12h15-14h:


Wednesday April 9 (BH18-143; main building of CHUV, 18th floor south)
o Introduction to the course.
o Metabolism and cerebral function during development.
o Isolation and contacts between CNS and periphery: Development of blood-brain barrier and choroid plexus.


Wednesday April 16 (seminar room 4, BH08; main building of CHUV, near auditoriums)
o Hyperammonemia in newborns and children: Consequences for brain development.


Wednesday April 30 (seminar room 4, BH08; main building of CHUV, near auditoriums)
o Creatine deficiencies.


Wednesday May 7 (seminar room 4, BH08; main building of CHUV, near auditoriums)
o Serine deficiencies
o Deficiency in glucose transporter GLUT1
o Phenylketonuria and BH4 deficiencies


Wednesday May 14 (seminar room 4, BH08; main building of CHUV, near auditoriums)
o MCAD deficiency (Medium Chain Acyl-CoA Dehydrogenase)
o Galactosemia
o Biotinidase deficiency
o Non-cetotic hyperglycinemia
o Homocystinuria

LOCATION
For rooms please see respective course dates; useful maps can be found here.

EVALUATION
Based on a written exam (mini-review).

REGISTRATION
By e-mail to the lndscourses@gmail.com before March 21, 2014 (course title as subject; supervisor in copy)

READING MATERIALS
Files related to the course can be found in the moodle system. If you cannot access, please address to the LN coordinator.

 

 


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FBM Doctoral School - Amphipôle 316 - CH-1015 Lausanne  - Switzerland  -  Phone +41 21 692 40 14