The Second Case of Saposin A Deficiency and Altered Autophagy

Krabbe disease is a lysosomal storage disease caused by galactosylceramidase deficiency, resulting in neurodegeneration with a rapid clinical downhill course within the first months of life in the classic infantile form. This process may be triggered by the accumulation of galactosylceramide (GalCer...

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Veröffentlicht in:JIMD Rep
Hauptverfasser: Kose, Melis, Demir, Secil Akyildiz, Akinci, Gulcin, Eraslan, Cenk, Yilmaz, Unsal, Ceylaner, Serdar, Yildirim, Eser Sozmen, Seyrantepe, Volkan
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323030/
https://ncbi.nlm.nih.gov/pubmed/29995202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_114
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