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

5. Juli 2017

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA)...

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Detect Severe combined immunodeficiency (SCID) early at birth!

21. Juni 2017

We offer TREC (T-cell receptor excision circle) DNA testing from Dried Blood Spots to aid in screening newborns for...

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Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease

16. Juni 2017

Background: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A)...

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Metabolic progression to clinical phenotype in classic Fabry disease

3. Januar 2017

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

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

19. Oktober 2016

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the a-galactosidase A gene (GLA)...

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Upcoming expanded Testing for Lysosomal Storage Disorders

21. September 2016

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

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Homocystein and Methylmalonic acid – Novel 2nd-tier tests

21. September 2016

In the healthy cell metabolism homocysteine is a short-living intermediate product, which is either transformed or removed by various...

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

21. Juni 2016

Background: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a...

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Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders

24. März 2016

High consanguinity rates, poor access to accurate diagnostic tests, and costly therapies are the main causes of increased burden...

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