تصفح Health Sciences-CAS (pre 2016) حسب الموضوع "genotype–phenotype correlation"
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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 ...