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WebMay 17, 2024 · Infantile neuronal ceroid lipofuscinosis (INCL), the most severe form of neuronal ceroid lipofuscinoses, is caused by mutations in the lysosomal enzyme palmitoyl protein thioesterase 1 (PPT1). Typical symptoms of this disease include progressive psychomotor developmental retardation, visual failure, seizures, and premature death. … WebThe PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is found in structures called lysosomes, which are …
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Webエレクトリック 偏光サングラス ELECTRIC JJF12 / MATTE BLACK / M BRONZE POLAR+ Sライン 釣り フィッの通販はau PAY マーケット - GOLGODA. 35％OFF 取寄 エレクトリッ … WebFunction [ edit] PPT-1 a member of the palmitoyl protein thioesterase family. PPT-1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal …
WebMay 17, 2024 · Infantile neuronal ceroid lipofuscinosis (INCL), the most severe form of neuronal ceroid lipofuscinoses, is caused by mutations in the lysosomal enzyme palmitoyl … WebEvaluation of patients with clinical presentations suggestive of neuronal ceroid lipofuscinoses (NCL) Aids in the differential diagnosis of infantile and late infantile NCL …
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