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Krabbe disease (KD), or globoid cell leukodystrophy (Online Mendelian Inheritance in Man #245200), is an autosomal recessive lysosomal storage disease caused by mutations in GALC leading to galactocerebrosidase deficiency. Age… Click to show full abstract
Krabbe disease (KD), or globoid cell leukodystrophy (Online Mendelian Inheritance in Man #245200), is an autosomal recessive lysosomal storage disease caused by mutations in GALC leading to galactocerebrosidase deficiency. Age at onset can vary from early infancy (3–6 months of age) to adulthood, which has rarely been reported. Little is known about the natural history and early manifestations of adult onset KD (AOKD).
Keywords:
magnetic resonance;
incidental magnetic;
krabbe disease;
resonance imaging;
disease;
adult onset
Journal Title: European Journal of Neurology
Year Published: 2022
Link to full text (if available)
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Journal Title: European Journal of Neurology
Year Published: 2022
Link to full text (if available)
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recommendations!