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111 results
  1. GALC gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/galc
    ... properly, leading to the signs and symptoms of Krabbe disease. Some individuals develop symptoms of Krabbe disease in childhood, adolescence, or adulthood ( ...
  2. Krabbe disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/krabbe-disease
    ... transmit signals properly, leading to the signs and symptoms of Krabbe disease. Learn more about the gene associated with Krabbe disease GALC Inheritance This condition is ... symptoms of the condition. Other Names for This Condition ...
  3. Krabbe disease 
    https://medlineplus.gov/ency/article/001198.htm
    Symptoms of early-onset Krabbe disease are: Changing muscle tone from floppy to rigid Hearing loss that leads to deafness Failure to ... that leads to blindness Vomiting With late onset Krabbe disease, vision ... rigid muscles. Symptoms vary from person to person. Other symptoms may ...
  4. PSAP gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/psap
    ... also been identified in individuals with signs and symptoms resembling another leukodystrophy called Krabbe disease . In addition, a few mutations in the PSAP ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... p><html:p >The most common form of Krabbe disease, called the infantile form, usually begins before the age of 1. Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes ...
  6. Mitochondrial Neurogastrointestinal Encephalopathy Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1179
    ... connexin 46.6) pathogenic variants, PLP1 -related disorders , Krabbe disease , Alexander ... at Initial Diagnosis To establish the extent of disease and needs ...
  7. 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 , ...
  8. 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 ...
  9. 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 ...
  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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