- Tytuł:
- "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
- Autorzy:
- Źródło:
- Proteomics. Clinical applications [Proteomics Clin Appl] 2024 Mar; Vol. 18 (2), pp. e2300040. Date of Electronic Publication: 2023 Oct 24.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Congenital Disorders of
Glycosylation */diagnosis
Congenital Disorders ofGlycosylation */genetics
Congenital Disorders ofGlycosylation */complications
Phosphotransferases (Phosphomutases)/*deficiency
Humans ; Transferrin/genetics ; Transferrin/metabolism ; Neuraminidase/metabolism ;Glycosylation - SCR Disease Name:
-
Congenital disorder of
glycosylation type 1A
Czasopismo naukowe