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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. 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 ...
  5. 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 ...
  6. Leukodystrophies 
    https://medlineplus.gov/leukodystrophies.html
    Leukodystrophies are rare diseases that affect the cells of the brain and are often genetic. Find more information on these progressive diseases. ... What ...
  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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