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Published in 2022 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddac299
Abstract: Abstract Infantile Krabbe disease is a rapidly progressive and fatal disorder of myelin, caused by inherited deficiency of the lysosomal enzyme β-galactocerebrosidase. Affected children lose their motor skills and other faculties; uncontrolled seizures are a…
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Keywords:
krabbe disease;
disease;
canonical canonical;
non canonical ... See more keywords