ARCHIMEDlife News

ARCHIMEDlife @ MSACL Salzburg: Mass Spectrometry Applications to Clinical Lab, 10.- 14.9.17

13. September 2017

We are proud to be a regular part of MSACL –  this year in Salzburg from 10.- 14. September...

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Our new Website is online!

1. September 2017

WELCOME! We are happy to announce that our new website is online. From now on you can find all...

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Newborn Screening Awareness Month: Expanded Newborn Screening for dozens of metabolic diseases

1. September 2017

September is Newborn Screening Awareness Month. Not only throughout this time we like to remind you, that you can...

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Now published: A consensus guideline for newborn screening by mass spectrometry

25. July 2017

An updated Consensus Guideline by worldwide experts is now available: See the publication of CLSI document NBS04-Ed2, Newborn Screening...

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Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving

10. July 2017

Background:  Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious...

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

5. July 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. June 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 Patients with Classic and Later-Onset Fabry

16. June 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. January 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. October 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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