Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Meirav Shtauber-Naamati"'
Autor:
Hava Peretz, Ayala Lagziel, Florian Bittner, Mustafa Kabha, Meirav Shtauber-Naamati, Vicki Zhuravel, Sali Usher, Steffen Rump, Silke Wollers, Bettina Bork, Hanna Mandel, Tzipora Falik-Zaccai, Limor Kalfon, Juergen Graessler, Avraham Zeharia, Nasser Heib, Hannah Shalev, Daniel Landau, David Levartovsky
Publikováno v:
Biomedicines, Vol 9, Iss 7, p 788 (2021)
Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the
Externí odkaz:
https://doaj.org/article/39f61b1380a64273a9863f181879c35b
Autor:
Ayala Lagziel, Avraham Zeharia, Sali Usher, Mustafa Kabha, Nasser Heib, David Levartovsky, Limor Kalfon, Hava Peretz, Bettina Bork, Daniel Landau, Tzipora C Falik-Zaccai, Juergen Graessler, Florian Bittner, Vicki Zhuravel, Silke Wollers, Hannah Shalev, Hanna Mandel, Meirav Shtauber-Naamati, Steffen Rump
Publikováno v:
Biomedicines, Vol 9, Iss 788, p 788 (2021)
Biomedicines
Volume 9
Issue 7
Biomedicines
Volume 9
Issue 7
Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2d2424bf74fad899664a3fa013befc
https://www.mdpi.com/2227-9059/9/7/788
https://www.mdpi.com/2227-9059/9/7/788
Autor:
Sali Usher, Tova Morad, Elena Keren-Tardai, Hava Peretz, Hanna Shalev, Ayala Lagziel, Daniel Landau, Tong Zhang, Gavin Blackburn, David Levartovsky, David G. Watson, Victoria Greenshpun, Meirav Shtauber-Naamati
Publikováno v:
Metabolomics. 8:951-959
Classical xanthinuria is a rare inherited metabolic disorder caused by either isolated xanthine dehydrogenase (XDH) deficiency (type I) or combined XDH and aldehyde oxidase (AO) deficiency (type II). XDH and AO are evolutionary related enzymes that s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbcb4c797c253f2afe37efc305d151de
https://doi.org/10.1007/s11306-011-0391-3
https://doi.org/10.1007/s11306-011-0391-3
Autor:
Meirav Shtauber Naamati, Hava Peretz, Hanna Shalev, Daniel Landau, Ivona Horn, Ayala Lagziel, Esther Shani, David Levartovsky
Publikováno v:
Molecular genetics and metabolism. 91(1)
Classical xanthinuria type II is an autosomal recessive disorder characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase activities due to lack of a common sulfido-olybdenum cofactor (MoCo). Two mutations, both in the N-terminal do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f01e073fb2091bbb1dbf517ab14a2e
https://pubmed.ncbi.nlm.nih.gov/17368066
https://pubmed.ncbi.nlm.nih.gov/17368066