EUGT/EU25 ERNDIM Best Practice Prague 5-6.10.06

 

Programme: ERNDIM/EUGT meeting October 5 and 6, 2006 Prague

Brian Fowler: ERNDIM/EUGT meeting October 5 and 6, 2006 Prague – Introduction

Cas Weykamp: Explanation of a Proposal for scoring in Assessment of Performance of Quantitative Scheme

Viktor Kozich: LSD in DPT Schemes

Brian Fowler: Separate meetings of DPT participants and none-DPT participants

Eduard Struys: Molecular and biochemical resolution of pyridoxine-dependent epilepsy

Jim Bonham: Reporting and commenting on metabolic results

Jim Bonham & Verena Peters: Urinary qualitative organic acid analysis: Differing analytical approaches and performance

Jim Bonham & Claire Hart: New Disorder of Serine / Glycine Biosynthesis: Biosynthesis: Phosphoserine Phosphoserine Aminotransferase Aminotransferase (PSAT) Deficiency

Milan Elleder: Survey of diagnosis of lysosomal storage disorders

Otto van Diggelen: Quality Assessment Enzyme Analysis for Lysosomal Storage Diseases