ARCHIMEDlife @ MSACL Salzburg: Mass Spectrometry Applications to Clinical Lab, 10.- 4.9.17

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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4. September 2017

You can easily subscribe to our monthly ARCHIMEDlife Newsletter and read about laboratory diagnostics, research studies, scientific publications and...

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

25. Juli 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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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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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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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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