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Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which ...

... More than 200 GALC gene mutations that cause Krabbe disease have been identified. Krabbe disease is a brain disorder that usually begins in infancy (infantile Krabbe disease) and causes movement and eating problems, impaired development, ...

... with signs and symptoms resembling another leukodystrophy called Krabbe disease.In addition, a few mutations in the PSAP ... SAPOSIN C DEFICIENCY; GDSAPC COMBINED SAPOSIN DEFICIENCY; PSAPD KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; KRBSAPA NCBI ...

... Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, van Bokhoven H, ...