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A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.
Vernau KM, Struys E, Letko A, Woolard KD, Aguilar M, Brown EA, Cissell DD, Dickinson PJ, Shelton GD, Broome MR, Gibson KM, Pearl PL, König F, Van Winkle TJ, O'Brien D, Roos B, Matiasek K, Jagannathan V, Drögemüller C, Mansour TA, Brown CT, Bannasch DL. Vernau KM, et al. Among authors: roos b. Genes (Basel). 2020 Sep 2;11(9):1033. doi: 10.3390/genes11091033. Genes (Basel). 2020. PMID: 32887425 Free PMC article.
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Pop A, Smith DEC, Kirby T, Walters D, Gibson KM, Mahmoudi S, van Dooren SJM, Kanhai WA, Fernandez-Ojeda MR, Wever EJM, Koster J, Waterham HR, Grob B, Roos B, Wamelink MMC, Chen J, Natesan S, Salomons GS. Pop A, et al. Among authors: roos b. Mol Genet Metab. 2020 Jul;130(3):172-178. doi: 10.1016/j.ymgme.2020.04.004. Epub 2020 May 4. Mol Genet Metab. 2020. PMID: 32402538 Free article.
Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism.
Wamelink MM, Struys EA, Huck JH, Roos B, van der Knaap MS, Jakobs C, Verhoeven NM. Wamelink MM, et al. Among authors: roos b. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 25;823(1):18-25. doi: 10.1016/j.jchromb.2005.01.001. Epub 2005 Jan 23. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 16055050
672 results