Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina
Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2/TPP1 gene, leading to a deficiency in tripeptidyl peptidase 1 activity. Enzyme replacement therapy with cerliponase alfa (recombinant human TPP1 [rhT...
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| Главные авторы: | , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
2022-07-01
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| Серии: | Journal of Inborn Errors of Metabolism and Screening |
| Предметы: | |
| Online-ссылка: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100304&tlng=en |
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