Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A… Read more

Detect Severe combined immunodeficiency (SCID) early at birth!

We offer TREC (T-cell receptor excision circle) DNA testing from Dried Blood Spots to aid in screening newborns for Severe Combined Immunodeficiency (SCID). SCID is… Read more

Correlation of Lyso-Gb3 levels in Patients with Classic and Later-Onset Fabry

Background: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates,… Read more

Metabolic progression to clinical phenotype in classic Fabry disease

Background: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant… Read more

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the a-galactosidase A gene (GLA) that result in absent or markedly… Read more

Upcoming expanded Testing for Lysosomal Storage Disorders

ARCHIMEDlife started offering genetic testing for Gaucher, Niemann-Pick A/B, MPS-I, Pompe and Fabry disease. More recently, we expanded our services for MPS II/ IVA and… Read more