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  1. Krabbe Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1238
    ... Search term GeneReviews Advanced Search Help < Prev Next > Krabbe Disease Synonyms: Galactocerebrosidase Deficiency, GALC Deficiency, Globoid Cell Leukodystrophy ...
  2. Krabbe disease 
    https://medlineplus.gov/ency/article/001198.htm
    Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease ... A defect in the GALC gene causes Krabbe disease. People with this gene defect do ... beta-galactosidase (galactosylceramidase). The body needs this enzyme ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Krabbe disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. Leukodystrophies | MedlinePlus 
    https://medlineplus.gov/leukodystrophies.html
    ... Is Leukodystrophy? (United Leukodystrophy Foundation) Treatments and Therapies Krabbe Disease (GLD) (National Marrow Donor Program) Specifics Aicardi-Goutieres ...
  5. Arylsulfatase A Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1130
    ... salt levels in sweat, & longer life expectancy. GALC Krabbe disease AR Spectrum ranging from infantile-onset disease (i. ... followed by rapid severe neurologic deterioration. Later-onset Krabbe disease is much more variable in its presentation & disease ...
  6. LMNB1-Related Autosomal Dominant Leukodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK338165
    ... Optic atrophy & epilepsy may occur. GALC Adult-onset Krabbe disease AR Affected persons present w/signs of pyramidal ... w/ LMNB1 -related ADLD. However, in adult-onset Krabbe disease, these tracts are less often affected in the ...
  7. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Druze ... 
    https://www.ncbi.nlm.nih.gov/books/NBK549466
    ... 000126 ​.2 Steinberg-Shemer et al [2020] GALC Krabbe disease AR c.1796T>G p.Ile599Ser ~100% 4 ~ ... Wenger DA. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in ...
  8. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/krabbe-disease</url><title >Krabbe disease</title><other_names ><other_name >Diffuse globoid body ...
  9. ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547304
    ... AR Neurologic regression Leukodystrophy Spasticity ↑ urinary sulfatide excretion Krabbe disease GALC AR Neurologic regression, spasticity Leukodystrophy ↓ galactocerebrosidase activity ( ...
  10. Hereditary Dystonia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1155
    ... deficiency AR ARSA Progressive demyelination Lysosomal storage diseases Krabbe disease AR GALC Progressive demyelination, enlargement of optic nerve & ...
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