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FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16.
Am J Hum Genet. 2013.
PMID: 23684011
Free PMC article.
Ammonium accumulation and chemokine decrease in culture media of Gcdh-/- 3D reaggregated brain cell cultures.
Cudré-Cung HP, Remacle N, do Vale-Pereira S, Gonzalez M, Henry H, Ivanisevic J, Schmiesing J, Mühlhausen C, Braissant O, Ballhausen D.
Cudré-Cung HP, et al. Among authors: do vale pereira s.
Mol Genet Metab. 2019 Apr;126(4):416-428. doi: 10.1016/j.ymgme.2019.01.009. Epub 2019 Jan 18.
Mol Genet Metab. 2019.
PMID: 30686684
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Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria.
Cudré-Cung HP, Zavadakova P, do Vale-Pereira S, Remacle N, Henry H, Ivanisevic J, Tavel D, Braissant O, Ballhausen D.
Cudré-Cung HP, et al. Among authors: do vale pereira s.
Mol Genet Metab. 2016 Sep;119(1-2):57-67. doi: 10.1016/j.ymgme.2016.07.013. Epub 2016 Jul 30.
Mol Genet Metab. 2016.
PMID: 27599447
Free article.
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New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.
Remacle N, Forny P, Cudré-Cung HP, Gonzalez-Melo M, do Vale-Pereira S, Henry H, Teav T, Gallart-Ayala H, Braissant O, Baumgartner M, Ballhausen D.
Remacle N, et al. Among authors: do vale pereira s.
Mol Genet Metab. 2018 Aug;124(4):266-277. doi: 10.1016/j.ymgme.2018.06.008. Epub 2018 Jun 18.
Mol Genet Metab. 2018.
PMID: 29934063
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Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues.
Braissant O, Jafari P, Remacle N, Cudré-Cung HP, Do Vale Pereira S, Ballhausen D.
Braissant O, et al. Among authors: do vale pereira s.
Neuroscience. 2017 Feb 20;343:355-363. doi: 10.1016/j.neuroscience.2016.10.049. Epub 2016 Oct 27.
Neuroscience. 2017.
PMID: 27984186
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