Publication
| Best HL, Cook SR, Waller-Evans H, Lloyd-Evans E, Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat International journal of molecular sciences26: 2025 |
| PubMed ID: 40003936 |
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| Records Return:
(3)
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| Catalog ID | Sex | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM01652 | Female | 11 YR | 165 | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
| GM05399 | Male | 1 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
| GM18455 | Male | | | proband | NIEMANN-PICK DISEASE, TYPE C2 | GM |
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