Publication
| Nunes MJ, Carvalho AN, Reis J, Costa D, Moutinho M, Mateus J, de Almeida RM, Brito S, Risso D, Nunes S, Castro-Caldas M, Gama MJ, Rodrigues CMP, Xapelli S, Diógenes MJ, Cartier N, Chali F, Piguet F, Rodrigues E, Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration Biochimica et biophysica acta Molecular basis of disease:166993 2023 |
| PubMed ID: 38142760 |
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| Records Return:
(3)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM03123 | Female | 9 YR | 451 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM22870 | Female | 4 YR | 2814 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM05659 | Male | 1 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
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