Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

5. July 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 Patients with Classic and Later-Onset Fabry

16. June 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. January 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. October 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. June 2016

Background: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC there is a...

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Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders

24. March 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. January 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. March 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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