“Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era
Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are currently recognized with disease-causing DNA variants: PPT1/CLN1, TPP1/CLN2, CLN3,...
Guardado en:
| Autores principales: | Pesaola, Favio, Guelbert, Guillermo, Venier, Ana Clara, Cismondi, Inés Adriana, Becerra, Adriana, Vazquez, Juan Carlos G, Fernandez, Elmer, De Paul, Ana Lucia, Guelbert, Norberto, Noher, Inés |
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| Formato: | article |
| Lenguaje: | Inglés |
| Publicado: |
2021
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| Materias: | |
| Acceso en línea: | http://hdl.handle.net/11086/18646 |
| Aporte de: |
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