Publication
| Wells C, Sorgenfrei J, Johnson SL, Albertson D, Rutter J, Baker SA, Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts PloS one20:e0319350 2025 |
| PubMed ID: 40338959 |
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| Records Return:
(3)
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| Catalog ID | Sex | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM27865 | Male | 13 YR | 3491 | proband | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | GM |
| GM28214 | Male | 41 YR | 3486 | father | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | GM |
| GM27448 | Male | 4 YR | 3486 | proband | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | GM |
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