Publications by authors named "Christianne le Bizec"
Article Synopsis
- Congenital disorders of glycosylation type I (CDG I) are rare genetic diseases caused by problems in making important sugar molecules for protein production.
- Two new patients with CDG Ie exhibit milder symptoms, primarily characterized by ataxia, with no significant liver issues.
- A mutation in the DPM1 gene causes reduced production of a crucial enzyme, leading to symptoms and highlighting the varied manifestations of CDG I.
