Adult-onset krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene

Keyphrases

• Novel mutation 100%
• Adult-onset 100%
• Krabbe Disease 100%
• Galactocerebrosidase 100%
• Peripheral Nervous System 33%
• Demyelinating Diseases 33%
• Clinical Symptoms 33%
• Central Nervous System 33%
• Molecular Analysis 33%
• Clinical Signs 33%
• Late-onset 33%
• Functional Activity 33%
• Older Siblings 33%
• Globoid Cell Leukodystrophy 33%
• Young Sister 33%
• Single-point mutation 33%

Neuroscience

• Krabbe Disease 100%
• Galactosylceramidase 100%
• Central Nervous System 33%
• Point Mutation 33%
• Peripheral Nervous System 33%
• Demyelinating Disorder 33%
• Leukodystrophy 33%