News and Publications
-
Update on screening cut-offs for Gaucher and Pompe diseases
April 28, 2025Effective 1 May 2025, the cut-off values for enzymatic testing for Gaucher and Pompe diseases have changed.The new Glucocerebrosidase (Gaucher) cut-off is changed to >1.2 µmol/L/h (old… Read more
-
Award for Outstanding Achievements on Rare Diseases
We are very happy to share that our CEO, Dr. David C. Kasper, has been selected as the winner of the Award for Outstanding Achievements in… Read more -
WORLDSymposium 2025 Poster Presentations – Updates on important diagnostic services
The WORLDSymposium for Lysosomal Storage Disorders convened in San Diego, CA, USA earlier this month. This important meeting brings together industry, physicians, advocate groups, and… Read more -
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder characterized by progressive neurodegeneration due to a deficiency in the enzyme arylsulfatase-A (ARSA). This deficiency leads to… Read more
-
MedLab Dubai. New directors appointed.
ARCHIMEDlife News October 23, 2023New directors appointed: @Gröning, MD, as Medical Director, Dr. med. Thomas Winkler , MD and David C. Kasper (also as Manager). Our mission together with our highly experienced local… Read more -
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
Acid sphingomyelinase deficiency (ASMD), commonly called Niemann-Pick A/B disease, is an autosomal recessively inherited lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase (ASM)… Read more