- Tytuł:
- Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
- Autorzy:
- Źródło:
- Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 01; Vol. 16 (1), pp. 112. Date of Electronic Publication: 2021 Mar 01.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Adenylosuccinate Lyase*/deficiency
Adenylosuccinate Lyase*/genetics
Autistic Disorder*
Purine-Pyrimidine Metabolism, Inborn Errors*/diagnosis
Purine-Pyrimidine Metabolism, Inborn Errors*/genetics
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Phenotype - SCR Disease Name:
- Adenylosuccinate lyase deficiency
Czasopismo naukowe