Article: Natural history of three late-diagnosed classic Galactosemia patients.
Molecular genetics and metabolism reports
2024 Volume 38, Page(s) 101057
Abstract: The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and ...
| Abstract | The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations. |
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| Language | English |
| Publishing date | 2024-01-23 |
| Publishing country | United States |
| Document type | Journal Article |
| ZDB-ID | 2821908-9 |
| ISSN | 2214-4269 |
| ISSN | 2214-4269 |
| DOI | 10.1016/j.ymgmr.2024.101057 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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