Lysosomal Storage Disorders
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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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The amedes group supports the NCL Foundation in Germany
ARCHIMEDlife News May 7, 2021In January, the amedes group called on their employees to nominate charitable organizations to be supported by the amedes group in the future. The overwhelming… 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
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At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
Pompe disease, also known as glycogen storage disease type II (GSD II), is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme… Read more
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Advanced diagnostics for Mucopolysaccharidoses
Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders affecting lysosomal metabolism. MPSs result in the accumulation of glycosaminoglycans in the body and can… Read more