- Tytuł:
-
Expanding the clinical spectrum of cytosolic
phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. - Autorzy:
- Źródło:
- Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 03; Vol. 18 (1), pp. 344. Date of Electronic Publication: 2023 Nov 03.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Brain Diseases*
Hypoglycemia*/etiology
Intracellular Signaling Peptides and Proteins*/genetics
Liver Diseases*/complicationsPhosphoenolpyruvate Carboxykinase (GTP )*/genetics
Humans ; Infant, Newborn ; Seizures/genetics - SCR Disease Name:
-
Phosphoenolpyruvate carboxykinase deficiency
Czasopismo naukowe