ERNDIM Workshop Programme
Alfonso de Oyarzabal – Cell trafficking and autophagy in neurometabolic disorders
Sara Boenzi – History and updates on the use of Biomarkers in lysosomal diseases: FABRY, GAUCHER, NPC, ASMD
Michael Gelb – Analysis of Endogenous-NRE GAG Biomarkers Provides the Most Reliable Method for Reducing False Positives in Newborn Screening for MPS Disorders and for Callibration of Values Across Multiple Reference Laboratories
Rafa Artuch – Chairs Update
Christine Vianey Saban – ERNDIM DPT Common Sample 2025
Susan Goorden – Introduction to the Lipids in Serum Scheme
DPT Switzerland Workshop
DPT United Kingdom Workshop
ERNDIM QLOU Workshop
DPT France Workshop
James Cooper – KS-462-282 An alternative Krabbe Disease biomarker with excellent diagnostic potential
Kate Neal – Adaptation of a UPLC-MS/MS Method for the Analysis of Glycosaminoglycan Fragments for the Diagnosis of Mucopolysaccharidosis in a UK Clinical Laboratory
Mercedes del Valle Sanz – Study of a Patient with Symptoms Compatible with Niemann-Pick Disease Type C but with Intermediate Levels of Lysosphingomyelin-509 and a Genetic Carrier of NPC1
Pablo Martínez Peregrina – Implication of neurotransmitter analysis on the diagnosis of SCN2A-Related disorder: Diagnostic and therapeutic considerations
Vincenzo Bellavia – Megdel syndrome associated with secondary 3-methylglutaconic aciduria: a case report of early neonatal diagnosis
Sonia Pajares – 4-Years-old Girl with Splenomegaly and Intermitent Thrombopenia with More than Two Years of Evolution
Chrysoula Kanakaki – Urine Organic Acid Analysis by GC-MS: The Need for Methodological Rigor Amidst Diagnostic & Technological Challenges
Pitrone M – Analysis of urinary organic acid profiles in children with autism spectrum disorders: a case-control study
Vincenzo Bellavia – Diagnosis of Classic Homocystinuria in a Pediatric Patient with a Complex Phenotype: Clinical Case and Multidisciplinary Approach
Gülsüm Feyza TÜRKEŞ – Determination of Cut-off Values Using the MOM Approach in Lysosomal Storage Diseases in Turkey: Findings from a Newborn Frequency Study
Emilio Vaena – MPS II models for the study of joint and bone pathophysiology developed by CRISPR/Cas9 technology