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A new case of ALG8 deficiency (CDG Ih).
Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J. Vesela K, et al. Among authors: honzik t. J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1203-z. Epub 2009 Aug 18. J Inherit Metab Dis. 2009. PMID: 19688606 Free article. Review.
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Kožich V, Schwahn BC, Sokolová J, Křížková M, Ditroi T, Krijt J, Khalil Y, Křížek T, Vaculíková-Fantlová T, Stibůrková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, García-Cazorla Á, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G, Nagy P. Kožich V, et al. Among authors: honzik t. Redox Biol. 2022 Dec;58:102517. doi: 10.1016/j.redox.2022.102517. Epub 2022 Oct 18. Redox Biol. 2022. PMID: 36306676 Free PMC article.
122 results