Publication
| Sprecher U, Dsouza J, Marisat M, Barasch D, Mishra K, Kakhlon O, Manor J, Anikster Y, Weil M, In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction Molecular genetics and metabolism reports42:101172 2025 |
| PubMed ID: 39802097 |
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| Records Return:
(3)
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| Catalog ID | Sex | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM17507 | Male | 16 YR | 1998 | cousin | OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 | GM |
| GM00038 | Female | 9 YR | 163 | daughter | APPARENTLY HEALTHY INDIVIDUAL | GM |
| GM00498 | Male | 3 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
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