Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Abstract Background Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplantation which improves survival and clinical outcomes...

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Bibliographic Details
Main Authors: Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins, Joseph J. Orsini
Format: Article
Language:English
Published: BMC 2018-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Krabbe disease
Newborn screening
Guidelines
Human stem cell transplantation
Infantile Krabbe disease
Confirmatory testing
Online Access:http://link.springer.com/article/10.1186/s13023-018-0766-x

Internet

http://link.springer.com/article/10.1186/s13023-018-0766-x

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