تصفح College of Health Sciences حسب الموضوع "Krabbe disease"
السجلات المعروضة 1 -- 2 من 2
-
Krabbe Disease in the Arab World
( IOS Press , 2015 , Article)The autosomal recessive inherited Krabbe disease (KD) is a devastating pediatric lysosomal storage disorder affecting white matter of the brain. It is caused by mutations in the gene coding for the lysosomal enzyme ... -
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
( Taylor & Francis , 2020 , Article)Krabbe disease (KD), also known as globoid cell leukodystrophy disease, is an autosomal recessive lysosomal storage genetic disorder, which is caused by the deficiecncy of galactocerebrosidase (GALC) coding gene (). This ...