Newborn Screening for Lysosomal Storage Disorders in Hungary

Author:

Wittmann Judit,Karg Eszter,Turi Sàndor,Legnini Elisa,Wittmann Gyula,Giese Anne-Katrin,Lukas Jan,Gölnitz Uta,Klingenhäger Michael,Bodamer Olaf,Mühl Adolf,Rolfs Arndt

Publisher

Springer Berlin Heidelberg

Reference50 articles.

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2. Beutler E, Gelbart T, Balicki D, Demina A, Adusumalli J, Elsas L 2nd et al (1996) Gaucher disease: four families with previously undescribed mutations. Proc Assoc Am Physicians 108(3):179–184

3. Blanchard S, Sadilek M, Scott CR, Turecek F, Michael H (2008) Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem 54:2067–2070

4. Blaydon D, Hill J, Winchester B (2001) Fabry disease: 20 novel GLA mutations in 35 families. Hum Mutat 18(5):459

5. Castro-Gago M, Eirís-Puñal J, Rodríguez-Núñez A, Pintos-Martínez E, Benlloch-Marín T, Barros-Angueira F (1999) Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292–> Cys/Arg-854–>Stop)]. Rev Neurol 29:46–49

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