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infantile neuronal ceroid lipofuscinosis : ウィキペディア英語版
infantile neuronal ceroid lipofuscinosis

Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982, perhaps 100 sufferers in total today – but relatively common in Finland due to the local founder effect.
==Causes==
It has been associated with palmitoyl-protein thioesterase.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「infantile neuronal ceroid lipofuscinosis」の詳細全文を読む



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