Publication
| Takamura A, Sakai N, Shinpoo M, Noguchi A, Takahashi T, Matsuda S, Yamamoto M, Narita A, Ohno K, Ohashi T, Ida H, Eto Y., The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. Mol Genet Metab.(http://www.sciencedirect.com/science/article/pii/: 2013 |
| PubMed ID: 24001525 |
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| Records Return:
(2)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM22870 | Female | 4 YR | 2814 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| AG08498 | Male | 1 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | AG |
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