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Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.
Majtan T, Olsen T, Sokolova J, Krijt J, Křížková M, Ida T, Ditrói T, Hansikova H, Vit O, Petrak J, Kuchař L, Kruger WD, Nagy P, Akaike T, Kožich V. Majtan T, et al. Among authors: kruger wd. Redox Biol. 2024 Jul;73:103222. doi: 10.1016/j.redox.2024.103222. Epub 2024 Jun 4. Redox Biol. 2024. PMID: 38843767 Free PMC article.
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Kraus JP, et al. Among authors: kruger wd. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 Review.
111 results