Publication
| Deng S, Liu TA, Ilnytska O, Allada T, Fomina A, Lin N, Petukhova VZ, Pathmasiri KC, Chinthapally K, Blagg BSJ, Ashfeld BL, Cologna SM, Storch J, Molecular determinants of phospholipid treatment to reduce intracellular cholesterol accumulation in NPC1 deficiency The Journal of biological chemistry300:107889 2024 |
| PubMed ID: 39395801 |
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| Records Return:
(2)
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| Catalog ID | Sex | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM03123 | Female | 9 YR | 451 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM18453 | Male | | 3245 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
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