ERNDIM Scientific Meeting, Basel, 2009

Session 3: Novel Disorders and Biochemical Diagnosis

A final solution to the ethylmalonic acid syndrome

Session 1: Diagnostic approaches

Clinical presentation and diagnostic difficulties of Glycogen storage diseases

Diagnosis of Congenital disorders of Glycosylation

Clinical approach to Diagnosis of Lysosomal Storage Diseases

Session 2: Future Developments in Genetic Testing / EQA

EMQN and EQA in molecular genetic testing

ERNDIM and the Eurogentest Project

Session 1: Diagnostic approaches

ERNDIM EQA scheme for CDG

ERNDIM EQA scheme for Lysosomal Enzymes

Session 2: Future Developments in Genetic Testing / EQA

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

Session 1: Diagnostic approaches

Introduction

Session 3: Novel Disorders and Biochemical Diagnosis

State of art of intracellular cobalamin defects—CblD, CblF

Common ERNDIM Meeting

Chairman’s update

Common DPT sample

Neurotransmitter disorders—clinical presentation, when to test

Analysis of neurotransmitters