Data from: Krabbe disease variant classification using parental blood-based diagnostic RNA-seq

Samya Chakravorty
Krabbe disease (KD) is a rare autosomal recessive lysosomal storage disorder (LSD) associated with severe neurodegeneration and high mortality and is one of most prevalent LSDs at a recent estimate of 1 in 12,080 live births. The disease pathogenesis is related to low/undetectable galactocerebrosidase (GALC) activity resulting in an accumulation of a cytotoxic GALC substrate, psychosine (Psy), that leads to diffuse demyelination, psychomotor delays, and high morbidity/mortality across the disease spectrum. Although phenotypic prediction in...
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These counts follow the COUNTER Code of Practice, meaning that Internet robots and repeats within a certain time frame are excluded.
What does this mean?