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124 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. Krabbe disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/krabbe-disease
    ... gov Catalog of Genes and Diseases from OMIM KRABBE DISEASE; KRB Scientific Articles on PubMed PubMed References Graziano AC, Cardile V. History, genetic, and recent ...
  3. GALC gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/galc
    ... GALC Gene and Variant Databases NCBI Gene ClinVar References Giri S, Khan M, Rattan R, Singh I, Singh AK. Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte ...
  4. PSAP gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/psap
    ... SAPOSIN C DEFICIENCY; GDSAPC COMBINED SAPOSIN DEFICIENCY; PSAPD KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; KRBSAPA Gene and Variant Databases NCBI Gene ClinVar References Al-Hassnan ZN, Al Dhalaan H, Patay Z, ...
  5. Leukodystrophies | MedlinePlus 
    https://medlineplus.gov/leukodystrophies.html
    ... Leukodystrophy, Metachromatic (National Institutes of ... Article: Infantile Krabbe disease (0-12 months), progression, ...
  6. Sturge-Weber syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/sturge-weber-syndrome
    ... Sturge-Weber Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe syndrome SWS ... PubMed References Comi AM, Sahin M, Hammill A, Kaplan EH, ...
  7. Nail-patella syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/nail-patella-syndrome
    ... Clinical Trials ClinicalTrials.gov Catalog of Genes and ... JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, van Bokhoven H, ...
  8. 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 ...
  9. 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 ...
  10. 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 ...
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