Erfelijke Stofwisselingsziekten Nederland
ESN Najaarsymposium 18 november 2009 |
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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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09.00 – 09.55: |
Ontvangst | ||
09.55 – 10.00: |
Opening Symposium | ||
| Sessie vrije voordrachten (1): | |||
Voorzitter: L. Klomp |
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10.00 – 10.15: |
J. Nouws | ||
| ACAD9 is a gene duplication of fatty acid oxidation enzyme VLCAD that is required for oxidative phosphorylation complex I assembly. UMC Sint Radboud, Nijmegen |
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10.15 – 10.30: |
M. Gerards | ||
| Homozygosity mapping reveals new genes and gene defects in consanguineous families with OXPHOS disease. Maastricht Universitair Medisch Centrum |
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10.30 – 10.45: |
M. Rocha | ||
| Homocysteine and DNA-methylation. VU medisch centrum, Amsterdam |
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10.45 – 11.00: |
M. Ebberink | ||
| Identification of an unusual variant peroxisome biogenesis disorder. Laboratorium Genetische Metabole Ziekten, Academisch Medisch Centrum, Amsterdam |
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11.00 – 11.15: |
L. van den Berg | ||
| Spiervezeltypering bij de ziekte van Pompe. Erasmus MC Sophia Kinderziekenhuis, Rotterdam |
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11.15 – 11.30: |
C. Aires | ||
| Inhibition of N‑acetylglutamate synthase activity by valproyl-CoA: a possible mechanism of VPA-induced hyperammonemia.Laboratorium Genetische Metabole Ziekten, Academisch Medisch Centrum, Amsterdam |
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11.30 – 11.40: |
Aankondiging Voorjaarsymposium Leuven | ||
11.40 – 11.50: |
Mededeling van het bestuur (G. Salomons) | ||
11.50 – 13.20: |
Lunch | ||
13.20 – 13.25: |
ESN prijzen (H.Blom) | ||
| Sessie vrije voordrachten (2): | |||
Voorzitter: J. Huijmans |
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13.25 – 13.40: |
W.Visser | D-amino acids in health and disease Department of metabolic diseases; division of pediatrics; UMC Utrecht |
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13.40 – 13.55: |
M. Mohamed | ||
| Forget the classic CDG phenotype; a broad spectrum of congenital anomalies in CDG type II. UMC Sint Radboud, Nijmegen |
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13.55 – 14.10: |
J. Ndika | ||
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Functional relevance of SLC6A8C and SLC6A8CDel9 - the splice variants of the creatine transporter gene(SLC6A8). VU medisch centrum, Amsterdam |
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14.10 – 14.45: |
Thee pauze | ||
| Sessie Stamcel transplantatie: | |||
Voorzitter: G Salomons |
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14.45 – 15.30: |
C. Mummery | ||
| Human pluripotent stem cells in development and disease. Leiden University Medical Center | |||
15.30 – 16.15: |
J.J. Boelens/M.Aldenhoven | ||
| Current opinions concerning Hematopoietic Stem Cell Transplantation in inborn errors of metabolism. Wilhelmina Kinderziekenhuis Utrecht |
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16.15 – 16.30:
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M. Aldenhoven | ||
| Lange termijn uitkomst na hematopoietische stamceltransplantatie - Syndroom van Hurler als prototype. Wilhelmina Kinderziekenhuis Utrecht |
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16.30: |
Borrel | ||