ERNDIM Meeting, October 22 – 23, 2009
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SESSION 1:
Diagnostic approaches
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Marianne Rohrbach: Clinical approach to Diagnosis of Lysosomal Storage Diseases |
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Dirk Lefeber: -Diagnosis of Congenital disorders of Glycosylation |
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Matthias R. Baumgartner: Clinical presentation and diagnostic difficulties of Glycogen storage diseases |
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SESSION 2:
Future Developments in
Genetic Testing / EQA
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Brian Fowler: ERNDIM and the Eurogentest Project |
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David Barton: EMQN and EQA in molecular genetic testing |
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Orly Elpeleg: Homozygosity mapping as a primary diagnostic tool: LIPN1-mutations as the major cause of recurrent rhabdomyolysis. |
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SESSION 3:
Novel Disorders and
Biochemical Diagnosis
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Brian Fowler: State of art of intracellular cobalamin defects: CblD, CblF. |
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Valeria Tiranti: A final solution to the ethylmalonic acid syndrome |
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Wim Kulik: The application of UHPLC-separation of acylcarnitines prior to MS/MS detection |
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Common ERNDIM
meeting
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Mick Henderson: Chairman's update |
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Brian Fowler: Common DPT sample |
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Nenad Blau: Neurotransmitter disorders: clinical presentation, when to test |
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Simon Heales: Analysis of neurotransmitters |