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

Homocystein and Methylmalonic acid – Novel 2nd-tier tests

In the healthy cell metabolism homocysteine is a short-living intermediate product, which is either transformed or removed by various metabolic pathways. The malfunction of the… Read more

Newborn Screening for Vitamin B6 Non-Responsive Classical Homocystinuria – Systematical Evaluation of a Two-Tier Strategy

Background: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of… Read more