Erfelijke Stofwisselingsziekten Nederland
ESN Najaarsymposium 2 november 2011 |
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| Antropia 'Cultuur- en Congrescentrum', Landgoed de Reehorst |
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Hoofdstraat 8, 3972 LA Driebergen |
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| telefoon: +31-343531818 |
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Programma |
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09.15 – 09.55: |
Ontvangst met koffie/thee | ||||||||
09.55 – 10.00: |
Opening door de voorzitter-Gajja Salomons | ||||||||
Ochtendsessie: |
Thema neurotransmitters en bewegingsstoornissen | ||||||||
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10.00 – 10.35: |
Nico Abeling | ||||||||
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10.35 – 11.10: |
Michel Willemsen | ||||||||
| Klinische en biochemische valkuilen bij de diagnostiek van dopamine biosynthese defecten, UMC Sint Radboud, Nijmegen | |||||||||
| Vrije voordrachten I | |||||||||
11.10 – 11.25: |
Tom de Koning | ||||||||
| Movement disorders in children with inborn errors, UMC, Utrecht |
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11.25 – 11.40: |
Monique Albersen | ||||||||
| Vitamin B6 vitamer concentrations in cerebrospinal fluid of newborn infants are strongly dependent on age, UMC, Utrecht |
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11.40 – 11.55: |
Eduard Struys | ||||||||
| α-Aminoadipic semialdehyde is not exclusively increased in pyridoxine dependent epilepsy. VUmc, Amsterdam |
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11.55 – 12.10: |
Joe Ndika | ||||||||
| Functional relevance of splicing in the creatine transporter gene, VUmc, Amsterdam |
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12.10 – 13.45: |
Lunch | ||||||||
Middagsessie: |
Vrije voordrachten II | ||||||||
| Leo Kluijtmans, Nijmegen (sessievoorzitter) | |||||||||
13.45 – 14.00: |
Marisa Mendes | ||||||||
| Understanding CBS activation by SAM: from patients to the in vitro study of mutant proteins, VUmc, Amsterdam/Lissabon |
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14.00 – 14.15: |
Henk Blom | ||||||||
| Adenosine Kinase Deficiency Disrupts the Methionine Cycle Causing Hypermethioninemia, Encephalopathy and Abnormal Liver Function, VUmc, Amsterdam |
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14.15 – 15.15: |
De ESN prijzen (voorzitter prijzencommissie Henk Blom) | ||||||||
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15.15 – 15.45: |
koffie/thee | ||||||||
| Vrije voordrachten III | |||||||||
| Irene Keularts , Maastricht (sessievoorzitter) | |||||||||
15.45 – 16.00: |
Laura van Dussen | ||||||||
| Chitotriosidase activity is a surrogate marker of Gaucher disease: a qualification study, AMC, Amsterdam |
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16.00 – 16.15: |
Gabor Linthorst | ||||||||
| Searching for Fabry, but ending up with MPS I? Drawbacks of screening, AMC, Amsterdam |
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16.15 – 16.30: |
Saskia Rombach | ||||||||
| Long term enzyme replacement therapy for fabry disease: effectiveness on kidney, heart, brain and complication risks. AMC, Amsterdam |
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16.30 – 16.35: |
Aankondiging voorjaarsvergadering (VUmc) | ||||||||
16.35:
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Borrel | ||||||||
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