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92 results
  1. Krabbe Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1238
    ... was found to arrest demyelination and axonal loss. Prevention of Secondary Complications Symptomatic individuals with Krabbe disease Physical therapy can improve strength, mobility, flexibility, and ...
  2. 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/ ...
  3. 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 ( ...
  4. Sandhoff Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK579484
    ... 6 mos Seizures Coarse features & skeletal disease GALC Krabbe disease ≤6 mos Seizures Leukodystrophy, peripheral neuropathy, & irritability GBA1 ( ... de Ramirez AO, Gravel RA, Argaraña CE. Sandhoff disease in Argentina: high ... on prevention, recognition and management of conflict in paediatric practice. ...
  5. HEXA Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1218
    ... Seizures Hepatosplenomegaly w/coarse features & skeletal disease GALC Krabbe disease – ≤6 mos Seizures Leukodystrophy, peripheral neuropathy, irritability GBA1 ( ...
  6. GM2 Activator Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK583219
    ... 6 mos Seizures Coarse features, skeletal disease GALC Krabbe disease ≤6 mos Seizures Leukodystrophy, peripheral neuropathy, irritability GBA1 ( ...
  7. Newborn Screening 
    https://medlineplus.gov/newbornscreening.html
    ... Isovaleric acidemia: MedlinePlus Genetics (National Library of Medicine) Krabbe disease: MedlinePlus Genetics (National Library of Medicine) Long-chain ...
  8. Berardinelli-Seip Congenital Lipodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1212
    ... Neurometabolic lysosomal storage disorders: Gaucher disease type 2 , Krabbe disease Russell diencephalic syndrome Leprechaunism: Donohue syndrome (See INSR - ...
  9. 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 disease , Canavan disease , congenital muscular dystrophy with ... preserve mobility. Activity as tolerated should be encouraged. ... of MNGIE disease may help avoid unnecessary exploratory abdominal surgeries, risks ...
  10. Spastic Paraplegia 7 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1107
    ... from SPG7 Adrenomyeloneuropathy and other leukodystrophies (e.g., Krabbe disease , arylsulfatase A deficiency [metachromatic leukodystrophy]) ABCD1 GALC ARSA ...
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