Publications
ARCHIMEDlife News, Biotech & Pharma, Healthcare Professionals, Publications, Rare Diseases, WEBPORTAL
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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ARCHIMEDlife News, Biotech & Pharma, Healthcare Professionals, Publications, Rare Diseases, WEBPORTAL
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...
Read moreHemoglobinopathies 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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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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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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