choroba z deficitu arylsulfatázy A choroba z deficitu cerebrozidsulfatázy
English X references
Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease
Scope note in English
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
See also reference (FX) in Slovak
cerebrozidsulfatáza
See also reference (FX) in English
Cerebroside-Sulfatase
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(1) - MeSH descriptor
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subject heading
openseadragon
Number of the records: 1
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