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Inborn errors of purine metabolism are rare syndromes with an array of complex phenotypes in humans. One such disorder, adenylosuccinate lyase deficiency (ASLD), is caused by a decrease in the activity of the bi-functional purine biosynthetic enzyme,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74eb03bc3e938e27ac15bfdf00d36ef4
https://doi.org/10.1101/181719
https://doi.org/10.1101/181719
Autor:
Janowitz HN; Cellular and Molecular Medicine Graduate Program, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205., Linden DJ; Cellular and Molecular Medicine Graduate Program, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 dlinden@jhmi.edu.
Publikováno v:
ENeuro [eNeuro] 2024 Feb 14; Vol. 11 (2). Date of Electronic Publication: 2024 Feb 14 (Print Publication: 2024).
Autor:
Fenton AR; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA., Janowitz HN; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA., Franklin LP; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA., Young RG; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA., Moro CA; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA., DeGennaro MV; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA., McReynolds MR; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA., Wang W; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA., Hanna-Rose W; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA. Electronic address: wxh21@psu.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107686. Date of Electronic Publication: 2023 Aug 15.