Abstract

Krabbe disease is a rare lysosomal storage illness caused by a mutation in the Galc gene. It characterized by severe neurological and metabolic disorders. The early infantile form is the most common. Regardless of the non-specific signs, diagnosis could be challenging. Over time, novel gene variants are uncovered.

Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.