- Tytuł:
-
Biotin-thiamine responsive
basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants. - Autorzy:
- Źródło:
-
Orphanet journal of rare
diseases [Orphanet J Rare Dis] 2023 Sep 05; Vol. 18 (1), pp. 271. Date of Electronic Publication: 2023 Sep 05. - Typ publikacji:
- Journal Article
- MeSH Terms:
-
Dystonia*
Basal Ganglia Diseases *
BrainDiseases *
Infant, Newborn ; Humans ; Child, Preschool ; Adult ; Biotin ; Kuwait ; Dysarthria ; Retrospective Studies ; Seizures ; Membrane Transport Proteins - SCR Disease Name:
-
Basal ganglia disease, biotin-responsive
Czasopismo naukowe