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102 results
  1. 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 ...
  2. 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 ...
  3. 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, ...
  4. Autosomal Dominant Leukodystrophy with Autonomic Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK338165
    ... for the degenerative phenotype [ Rolyan et al 2015 ]. References Literature Cited Abdelhalim AN, Alberico RA, Barczykowski AL, Duffner PK. Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype. Pediatr Neurol. 2014; 50 :127– ...
  5. 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, ...
  6. 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, ...
  7. Leukodystrophies | MedlinePlus 
    https://medlineplus.gov/leukodystrophies.html
    ... Is Leukodystrophy? (United Leukodystrophy Foundation) Treatments and Therapies Krabbe Disease (GLD) (National Marrow Donor Program) Specifics Adrenoleukodystrophy (National ...
  8. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Druze ... 
    https://www.ncbi.nlm.nih.gov/books/NBK549466
    ... 2 NP_078865 ​.1 Mory et al [2012] Krabbe disease AR GALC c.1796T>G p.Ile599Ser ~100% ... Wenger DA. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in ...
  9. 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 ...
  10. FARS2 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK538658
    ... Disease Gorman GS, Taylor RW. GeneReviews®. 1993 Review Krabbe Disease [GeneReviews ® . 1993] Review Krabbe Disease Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. ...
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