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

3. October 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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Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria

29. November 2011

Background: The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement...

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