High incidence of α-Mannosidosis in ‘MPS-like’ phenotypes

2. September 2020

α-Mannosidosis is an inherited lysosomal storage disorder caused by genetic mutations leading to limited or no expression of a...

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Diagnostic Strategy for Females Suspected of Fabry Disease

18. August 2020

Fabry disease (FD) is a X-linked inherited disorder where deficiency of the α-Galactosidase A (α-Gal A) enzyme causes Globotriaosylceramide...

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Hemoglobinopathies and β-Thalassemia: Investigating High-Res Mass Spectrometry

18. February 2020

Early diagnosis of hemoglobin disorders and Thalassemias are become more important due to a high carrier frequency and ease...

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Awarded work: Hemoglobinopathies and Thalassemias

14. March 2018

Our awarded work (Poster Finalist at MSACL Europe, also see the PDF Poster Hemoglobinopathies_MSACL) on hemoglobinopathies and thalassemias is now...

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Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine (Lyso-Gb3) and time to initiation of enzyme replacement therapy, an observational study

7. March 2018

Introduction: Methods: Results:  Conclusion: Authors / corresponding author*  JAlbinaNowakaSarah H.HailebDavid C.KaspercThomas P.MechtlercAndreas J.FlammeraPierre A.KrayenbuehldDaniel P.Franzena   University Hospital Zurich,...

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Diagnostic accuracy of the ROCHE Septifast PCR system for the rapid detection of blood pathogens in neonatal sepsis – A prospective clinical trial

13. November 2017

Introduction:  Diagnosis of neonatal sepsis remains a major challenge in neonatology. Most molecularbased methods are not customized for neonatal...

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Become part of our readers´ community

12. November 2017

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

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First Trimester Vaginal Ureaplasma Biovar Colonization and Preterm Birth

22. September 2017

Background:  While there is a proven association of upper genital tract Ureaplasma infection during pregnancy with adverse pregnancy outcome,...

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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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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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