Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

Article ID	Journal	Published Year	Pages	File Type
10833757	Molecular Genetics and Metabolism	2012	6 Pages	PDF

Abstract

âº Clinical, biochemical, molecular information on six patients with Krabbe disease. âº One patient presented with hydrocephalus. âº Retrospective galactocerebrosidase analysis in NBS samples stored up to 13Â years. âº NBS test demonstrated 100% sensitivity and specificity. âº Five previously unreported mutations and 2 novel variants identified in GALC gene.

Keywords

HSCT Krabbe Disease Lysosomal storage diseases Newborn screening bone marrow transplant Galactocerebrosidase

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

Authors

R.L. Puckett, J.J. Orsini, G.M. Pastores, R.Y. Wang, R. Chang, C.A. Saavedra-Matiz, P.A. Torres, B. Zeng, M. Caggana, F. Lorey, J.E. Abdenur,