ERNDIM

Meetings and Reports

Meetings


ERNDIM Scientific Meeting, Basel, 2009
22-Sep-2009


Session 3: Novel Disorders and Biochemical Diagnosis

1

A final solution to the ethylmalonic acid syndrome Valeria Tiranti

Session 1: Diagnostic approaches

2

Clinical approach to Diagnosis of Lysosomal Storage Diseases Marianne Rohrbach

3

Clinical presentation and diagnostic difficulties of Glycogen storage diseases Matthias R. Baumgartner

4

Diagnosis of Congenital disorders of Glycosylation Dirk Lefeber

Session 2: Future Developments in Genetic Testing / EQA

5

EMQN and EQA in molecular genetic testing David Barton

6

ERNDIM and the Eurogentest Project Brian Fowler

Session 1: Diagnostic approaches

7

ERNDIM EQA scheme for CDG Dirk Lefeber

8

ERNDIM EQA scheme for Lysosomal Enzymes O. van Diggelen

Session 2: Future Developments in Genetic Testing / EQA

9

Homozygosity mapping as a primary diagnostic tool: LIPN1-mutations as the major cause of recurrent rhabdomyolysis Orly Elpeleg

Session 1: Diagnostic approaches

10

Introduction Professor Brian Folwer

Session 3: Novel Disorders and Biochemical Diagnosis

11

State of art of intracellular cobalamin defects: CblD, CblF Brian Fowler

Common ERNDIM Meeting

12

Chairman's update Mick Henderson

13

Common DPT sample Brian Fowler

14

Neurotransmitter disorders: clinical presentation, when to test Nenad Blau

15

Analysis of neurotransmitters Simon Heales