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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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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MALDI Orbitrap mass spectrometry for fast and simplified analysis of novel street and designer drugs

22. März 2014

Background: New strategies of rapid high-throughput analysis of street drugs without time-consuming sample preparations are necessary due to the...

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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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