New testing options for Cerebrotendinous Xanthomatosis (CTX)ARCHIMEDlife News , Diagnostics March 10, 2021
About CTX: CTX (cerebrotendinous xanthomatosis) is a rare and serious disease of bile acid metabolism with an estimated incidence of about 1:50,000. The disease is… Read more
Newborn Screening for Metachromatic Leukodystrophy in Northern Germany – A prospective studyPublications , Newborn Screening March 1, 2021
This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Introduction Metachromatic leukodystrophy (MLD) is a rare, fatal autosomal-recessive… Read more
Diagnosis and prevalence of Congenital Adrenal Hyperplasia (CAH) in Austrian children screened or not screened for CAHARCHIMEDlife News , Publications October 3, 2013Prevalence of Congenital Adrenal Hyperplasia (CAH) is not exactly known in Austria, a number of patients with CAH might not be diagnosed, especially males. CAH is in… Read more
Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in AustriaARCHIMEDlife News , Publications November 29, 2011Background: The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement therapies, the need for early diagnosis,… Read more
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