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119 results
  1. Krabbe Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1238
    ... click here . National Library of Medicine Genetics Home Reference Krabbe disease Newborn Screening in Your State Health Resources & Services ... of unknown significance are identified, elevated psychosine (within reference range ... Krabbe disease) and low GALC activity are suggestive findings of ...
  2. McLeod Neuroacanthocytosis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1354
    ... live 8 April 2004 (hj, ad) Original submission ... A. Absence of acanthocytosis in Huntington's disease-like 2: a prospective comparison with Huntington's ...
  3. 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 ...
  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. 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 ...
  7. 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 ...
  8. 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 ( ...
  9. 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 & ...
  10. Alexander Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1172
    ... w/o frontal predominance; sparing of putamen GALC Krabbe disease 1 Early feeding difficulties, hypotonia, & irritability Developmental regression & ... Information Page National Library of Medicine Genetics Home Reference Alexander disease Waisman Center for Alexander Disease University of Wisconsin- ...
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