Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H(2)S homeostasis

Regulation of H(2)S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H(2)S by studying patients with respective genetic defects. We analyzed sulfur compounds (including bioavailable sulfide) in 37 untreated or insu...

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Detalles Bibliográficos
Autores principales: Kožich, Viktor, Schwahn, Bernd C, Sokolová, Jitka, Křížková, Michaela, Ditroi, Tamas, Krijt, Jakub, Khalil, Youssef, Křížek, Tomáš, Vaculíková-Fantlová, Tereza, Stibůrková, Blanka, Mills, Philippa, Clayton, Peter, Barvíková, Kristýna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, García-Cazorla, Ángeles, Haack, Tobias B, Honzík, Tomáš, Ješina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, René, Schwarz, Guenter, Nagy, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9615310/
https://www.ncbi.nlm.nih.gov/pubmed/36306676
http://dx.doi.org/10.1016/j.redox.2022.102517

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