Abstract
Leukodystrophies are a heterogeneous group of inherited neurological disorders characterized by progressive demyelination that causes loss of motor, sensory and intellectual functions leading to a fatal outcome. These disorders result from dysfunctions in myelin metabolism as a consequence of genetic enzymatic defects specific to each leukodystrophy subtype1. Krabbe disease (KD), also called globoid cell leukodystrophy (GCL), is inherited in an autosomal recessive pattern and has an estimated incidence of 1 in each 100,000/200,000 live births. It affects the peripheral and [...]
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