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

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. Howeve...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Kwon, Jennifer M., Matern, Dietrich, Kurtzberg, Joanne, Wrabetz, Lawrence, Gelb, Michael H., Wenger, David A., Ficicioglu, Can, Waldman, Amy T., Burton, Barbara K., Hopkins, Patrick V., Orsini, Joseph J.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5796396/
https://ncbi.nlm.nih.gov/pubmed/29391017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0766-x
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