High incidence of α-Mannosidosis in ‘MPS-like’ phenotypes
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High incidence of α-Mannosidosis in ‘MPS-like’ phenotypes
α-Mannosidosis is an inherited lysosomal storage disorder caused by genetic mutations leading to limited or no expression of a gene responsible for metabolizing oligosaccharides. Besides… Read more
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Diagnostic Strategy for Females Suspected of Fabry Disease
Fabry disease (FD) is a X-linked inherited disorder where deficiency of the α-Galactosidase A (α-Gal A) enzyme causes Globotriaosylceramide (GL-3/Gb3) lipid accumulation in the cells… Read more
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Importance of including ASMD diagnostics in suspected Gaucher patients
Acid Sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Type A/B, is characterized by an enzyme deficiency that leads to the toxic accumulation of sphingomyelin. “Recent… Read more
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Hemoglobinopathies and β-Thalassemia: Investigating High-Res Mass Spectrometry
Early diagnosis of hemoglobin disorders and Thalassemias are become more important due to a high carrier frequency and ease of global migration. In a prospective… Read more
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amedes and ARCHIMEDlife – a new strong international alliance
ARCHIMEDlife News January 17, 2020ARCHIMEDlife is very proud to announce the strategic alliance with amedes Holding GmbH, a leading provider in interdisciplinary and medical-diagnostic services for patients, physicians and… Read more -
SSIEM 2019 in Rotterdam
ARCHIMEDlife News August 27, 2019Exciting! Our booth with a brand new look and novel, innovative portfolio of diagnostic tests and services. First time presenting at SSIEM, 3 – 6… Read more