- ... published></health-condition-summary><health-condition-summary ><name >Krabbe disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... 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 , ...
- ... AR Neurologic regression Leukodystrophy Spasticity ↑ urinary sulfatide excretion Krabbe disease GALC AR Neurologic regression, spasticity Leukodystrophy ↓ galactocerebrosidase activity ( ...
- ... Isovaleric acidemia: MedlinePlus Genetics (National Library of Medicine) Krabbe disease: MedlinePlus Genetics (National Library of Medicine) Long-chain ...
- ... 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 ...
- ... regression Leukodystrophy Spasticity Optic atrophy ↑ urinary sulfatide excretion Krabbe disease GALC AR Neurologic regression Leukodystrophy Spasticity Optic atrophy ...
- ... six months of life in many conditions, including: Krabbe disease , Canavan disease , Alexander disease , infantile Gaucher disease , and ... for a period the episodes of psychotic depression. Prevention of ... (Tay-Sachs disease) becomes more debilitated and disabled, good bowel management ...
- ... in individuals with arylsulfatase A deficiency (metachromatic leukodystrophy), Krabbe disease , and Canavan disease , commencing at the arcuate fibers. ... as in individuals who do not have Alexander disease. Physical and occupational ... of Secondary Complications The following are appropriate: Swallow ...
- ... w/low-density tigroid stripes Adult form of Krabbe disease GALC Pyramidal signs, developing into para- or tetraparesis ... with seizures and are reported to be beneficial. Prevention ... the progression of the disease. Some of the social consequences may be avoided ...
- ... January 26, 2010; Last Update: June 13, 2019. Krabbe Disease Joseph J Orsini, Maria L Escolar, Melissa P ... Medical Error Prevention [StatPearls. 2020] Review Medical Error ... Part 1: Updated Disease Classification and Disease-Modifying Therapy Use in Specific ...
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