First hematopoietic stem cell transplantation in a child with late infantile Krabbe disease in Poland

• Main Authors: Izabella Miśkiewicz-Migoń (Author), Justyna Miśkiewicz-Bujna (Author), Monika Mielcarek-Siedziuk (Author), Jowita Frączkiewicz (Author), Ewa Gorczyńska (Author), Krzysztof Kałwak (Author)
• פורמט: ספר
• יצא לאור: Termedia Publishing House, 2021-03-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Krabbe disease (KD) is a lysosomal storage disorder, caused by a deficiency of galactocerebrosidase (GALC) or a mutation in the prosaposin gene, which leads to psychosine accumulation. Consequently, demyelination and degradation of the nervous system occur. Newborns with early infantile Krabbe disea...