Publications
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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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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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OPEN LETTER – We stay open for you and your patients – Please read
We stay open for you and your patients! We used the last days to prepare us to continue our work and services on the highest… 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