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127 results
  1. Krabbe disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/krabbe-disease
    ... disease. Learn more about the gene associated with Krabbe disease GALC Inheritance This condition is inherited in an ...
  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. GALC gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/galc
    ... little psychosine. Health Conditions Related to Genetic Changes Krabbe disease More than 200 GALC gene mutations that cause Krabbe disease have been identified. Krabbe disease is a brain ...
  4. 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/ ...
  5. Genetic Conditions: G 
    https://medlineplus.gov/genetics/condition-g
    ... see Galactosemia Galactosemia Galactosialidosis Galactosylceramidase deficiency disease, see Krabbe disease Galactosylceramide lipidosis, see Krabbe disease Galactosylcerebrosidase deficiency, see ...
  6. Autosomal Dominant Leukodystrophy with Autonomic Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK338165
    ... isointense with CSF on T 2 -weighted images. Krabbe disease and arylsulfatase A deficiency (metachromatic leukodystrophy). These autosomal ... adults with nonspecific clinical features. In adult-onset Krabbe disease [ Farina et al 2000 , Wang et al 2007 , ...
  7. 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 ...
  8. PSAP gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/psap
    ... with signs and symptoms resembling another leukodystrophy called Krabbe disease . In addition, a few mutations in the PSAP ... SAPOSIN C DEFICIENCY; GDSAPC COMBINED SAPOSIN DEFICIENCY; PSAPD KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; KRBSAPA Gene ...
  9. 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 ...
  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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