Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.
Glycogen storage disease type I (GSD I) is a rare autosomal recessive inborn error of carbohydrate metabolism caused by the defects of glucose-6-phosphatase complex (G6PC). Disease causing variants in the G6PC gene, located on chromosome 17q21 result in glycogen storage disease type Ia (GSD Ia). Age...
| Auteurs principaux: | , , , , |
|---|---|
| Format: | Article |
| Langue: | English |
| Publié: |
Public Library of Science (PLoS)
2023-01-01
|
| Collection: | PLoS ONE |
| Accès en ligne: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0288965&type=printable |