News and Publications
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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
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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 -
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
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In-person Conferences once again!
With the start of 2022, ARCHIMEDlife is pleased to announce that we will be once again attending in-person conferences! The WORLDSymposium for lysosomal disease research… Read more
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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