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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The Austrian Toxoplasmosis Register

15. Januar 2015

BACKGROUND: We aimed to determine the incidence of primary gestational infections with Toxoplasma gondii and congenital toxoplasmosis in Austria, a...

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Austrian Newborn Screening Program: A perspective of five decades

13. November 2014

In 1966, the National Austrian Newborn Screening Program for inherited metabolic and endocrine disorders was initiated. In the last...

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Diagnosis and prevalence of Congenital Adrenal Hyperplasia (CAH) in Austrian children screened or not screened for CAH

3. Oktober 2013

Prevalence of Congenital Adrenal Hyperplasia (CAH) is not exactly known in Austria, a number of patients with CAH might not...

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Matrix-assisted laser desorption / ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots

15. Juli 2013

Screening for inborn errors of metabolism using mass spectrometry is part of nationwide newborn screening programs and involves the...

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