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pro vyhledávání: '"Lan-Xiao Cao"'
Publikováno v:
World Journal of Clinical Cases
BACKGROUND Type 1 sialidosis, also known as cherry-red spot-myoclonus syndrome, is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life. The most common symptoms are myoclonus, ataxia and seizure. It is rarely
Publikováno v:
World Journal of Clinical Cases
BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive inherited metabolic disorder. It results from a deficiency of sterol 27-hydroxylase (CYP27A1), which is a mitochondrial cytochrome P450 enzyme that catalyzes the hydro