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131 results
  1. Krabbe Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1238
    ... Scenario 1 The testing required to establish the diagnosis Krabbe disease in a symptomatic proband. In individuals with some ... Scenario 2 The testing required to establish the diagnosis Krabbe disease in an asymptomatic infant identified on NBS. Presumptive ...
  2. 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 ...
  3. 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 ...
  4. Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1358
    ... discussed in this overview and suggest a different diagnosis, including childhood-onset disorders with significant CNS involvement such as metachromatic leukodystrophy , Krabbe disease , Pelizaeus-Merzbacher disease , and Lowe syndrome . Other Hereditary ...
  5. Arylsulfatase A Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1130
    ... Type 2 is characterized by milder DD & neurologic symptoms, development of angiokeratoma corporis diffusum, normal salt levels in sweat, & longer life expectancy. GALC Krabbe disease AR Spectrum ranging from infantile-onset disease (i. ...
  6. LMNB1-Related Autosomal Dominant Leukodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK338165
    ... Lacour A, Said G, Vanier MT, Sedel F. Krabbe disease in adults: phenotypic and genotypic update from ... Guidelines for the diagnosis and treatment of cobalamin and folate disorders. Br ...
  7. Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1258
    ... degeneration Arylsulfatase A deficiency (metachromatic leukodystrophy) ARSA AR ... Megalencephalic leukoencephalopathy with subcortical cysts HEPACAM MLC1 AR ...
  8. 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 ...
  9. Spastic Paraplegia 7 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1107
    ... 2. Other Disorders to Consider in the Differential Diagnosis of ... A deficiency [metachromatic leukodystrophy]) ABCD1 GALC ARSA ...
  10. GALC gene 
    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 ( ...
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