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Page 1
Neurological findings in aminoacylase 1 deficiency.
Sass JO, Olbrich H, Mohr V, Hart C, Woldseth B, Krywawych S, Bjurulf B, Lakhani PK, Buchdahl RM, Omran H. Sass JO, et al. Neurology. 2007 Jun 12;68(24):2151-3. doi: 10.1212/01.wnl.0000264933.56204.e8. Neurology. 2007. PMID: 17562838 No abstract available.
The molecular basis of aminoacylase 1 deficiency.
Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO. Sommer A, et al. Among authors: sass jo. Biochim Biophys Acta. 2011 Jun;1812(6):685-90. doi: 10.1016/j.bbadis.2011.03.005. Epub 2011 Mar 23. Biochim Biophys Acta. 2011. PMID: 21414403 Free article.
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schäfer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA. Pol A, et al. Among authors: sass jo. Nat Genet. 2018 Jan;50(1):120-129. doi: 10.1038/s41588-017-0006-7. Epub 2017 Dec 18. Nat Genet. 2018. PMID: 29255262 Free PMC article.
Aminoacylase 1 deficiency associated with autistic behavior.
Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A. Tylki-Szymanska A, et al. Among authors: sass jo. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S211-4. doi: 10.1007/s10545-010-9089-3. Epub 2010 May 18. J Inherit Metab Dis. 2010. PMID: 20480396
Gamma-hydroxybutyric acid.
Sass JO, Superti-Furga A. Sass JO, et al. N Engl J Med. 2005 Oct 13;353(15):1632-3. doi: 10.1056/NEJMc052046. N Engl J Med. 2005. PMID: 16221793 No abstract available.
169 results