Publication
| Wheeler S, Haberkant P, Bhardwaj M, Tongue P, Ferraz MJ, Halter D, Sprong H, Schmid R, Aerts JMFG, Sullo N, Sillence DJ, Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease Neurobiology of disease127:242-252 2018 |
| PubMed ID: 30872158 |
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| Records Return:
(5)
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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 |
| GM03124 | Female | 9 YR | 451 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM00380 | Female | 35 YR | 397 | parent | TRANSLOCATED CHROMOSOME | GM |
| GM03299 | Female | 8 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
| GM05399 | Male | 1 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
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