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- W2345864735 abstract "Secondary cerebral folate deficiency (CFD) has been described in various neurodegenerative diseases, for example, Aicardi–Goutieres syndrome, Kearns–Sayre syndrome, and other mitochondriopathies. The importance of associated CFD lies in the possibility that treatment with folinic acid may improve the outcome of these diseases, or its presence may affect the course of the disease. We describe a patient with neuronal ceroid lipofuscinosis (NCL) type 2 due to tripeptidyl-peptidase I (TPP1) deficiency with an atypical presentation of chorea and dystonia. She was subsequently found to have low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF). TPP1 level in skin fibroblast cultures was" @default.
- W2345864735 created "2016-06-24" @default.
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- W2345864735 date "2016-05-04" @default.
- W2345864735 modified "2023-09-27" @default.
- W2345864735 title "Secondary Cerebral Folate Deficiency Comorbidity in Neuronal Ceroid Lipofuscinosis" @default.
- W2345864735 doi "https://doi.org/10.1055/s-0036-1583275" @default.
- W2345864735 hasPublicationYear "2016" @default.
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