Bachmann-Bupp syndrome: Revision history


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  • curprev 17:1017:10, 1 December 2023Qwerfjkl (bot) talk contribsm 12,825 bytes +26 Bot: Adding AfC template (Task 15) undo
  • curprev 17:0717:07, 1 December 2023Leherdzi talk contribs 12,799 bytes +12,799 Created page with '== Bachmann-Bupp Syndrome == Bachmann-Bupp Syndrome (BABS) is a rare genetic disorder linked to mutations in the ''ODC1'' gene. It is caused by 3’ end mutations of the ''ODC1'' gene which produces C-terminally truncated variants of ODC, a pyridoxal 5’-phosphate-dependent enzyme.<ref>Bachmann AS, VanSickle EA, Michael J, Vipond M, Bupp CP. Bachmann-Bupp syndrome and treatment. Dev Med Child Neurol. 2023 Jul 19. doi: 10.1111/dmcn.15687. Epub ahead of pri...'