المؤلفون: Taylor JL, Ayres-Galhardo PH, Brown BL

المصدر: Biochemistry [Biochemistry] 2024 Jul 02; Vol. 63 (13), pp. 1636-1646. Date of Electronic Publication: 2024 Jun 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 0370623 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1520-4995 (Electronic) Linking ISSN: 00062960 NLM ISO Abbreviation: Biochemistry Subsets: MEDLINE

مواضيع طبية MeSH: 5-Aminolevulinate Synthetase*/genetics , 5-Aminolevulinate Synthetase*/metabolism , 5-Aminolevulinate Synthetase*/chemistry , 5-Aminolevulinate Synthetase*/deficiency , Anemia, Sideroblastic*/genetics , Anemia, Sideroblastic*/metabolism, Humans ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/metabolism ; Loss of Function Mutation ; Enzyme Stability ; Heme/metabolism ; Heme/chemistry ; Porphyrias/genetics ; Porphyrias/metabolism ; Models, Molecular ; Mutation ; Protoporphyria, Erythropoietic

SCR Disease Name: X-linked sideroblastic anemia; Protoporphyria, Erythropoietic, X-Linked Dominant