WEBPORTAL
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Press Release. ARCHIMEDlife achieves ISO 27001 Certification for Information Security Management
ARCHIMEDlife News September 3, 2025Vienna, Austria – [03.09.2025] — ARCHIMEDlife, international disease-focused Medical Laboratories* in Precision Medicine for Rare Disease and Specialty Diagnostics, is proud to announce that it has successfully… Read more
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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
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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 -
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected,… Read more
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New testing options for Cerebrotendinous Xanthomatosis (CTX)
About CTX: CTX (cerebrotendinous xanthomatosis) is a rare and serious disease of bile acid metabolism with an estimated incidence of about 1:50,000. The disease is… Read more
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Newborn Screening for Metachromatic Leukodystrophy in Northern Germany – A prospective study
This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Introduction Metachromatic leukodystrophy (MLD) is a rare, fatal autosomal-recessive… Read more