| Autor: |
Sandra D.K. Kingma, Laura K.M. Steinbusch, Sietse M. Aukema, Margje Sinnema, Bianca Panis, Joost Nicolai, Estela Rubio-Gozalbo |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101159- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2024.101159 |
| Popis: |
D-glyceric aciduria (DGA) is caused by D-glycerate-2-kinase deficiency due to biallelic pathogenic variants in GLYCTK. It is associated with variable neurological symptoms. DGA is extremely rare, and genetic variants are only known in 7 previously described patients. We report a new patient with DGA and a novel homozygous GLYCTK variant. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
