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Ketone body metabolism and its defects.
Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Fukao T, et al. Among authors: sass jo. J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8. J Inherit Metab Dis. 2014. PMID: 24706027 Review.
Amino acid metabolism in patients with propionic acidaemia.
Scholl-Bürgi S, Sass JO, Zschocke J, Karall D. Scholl-Bürgi S, et al. Among authors: sass jo. J Inherit Metab Dis. 2012 Jan;35(1):65-70. doi: 10.1007/s10545-010-9245-9. Epub 2010 Nov 27. J Inherit Metab Dis. 2012. PMID: 21113738 Review.
Mutation analysis in 54 propionic acidemia patients.
Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO. Kraus JP, et al. Among authors: sass jo. J Inherit Metab Dis. 2012 Jan;35(1):51-63. doi: 10.1007/s10545-011-9399-0. Epub 2011 Oct 27. J Inherit Metab Dis. 2012. PMID: 22033733
The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'.
Scholl-Bürgi S, Korman SH, Applegarth DA, Karall D, Lillquist Y, Heinz-Erian P, Davidson AG, Haberlandt E, Sass JO. Scholl-Bürgi S, et al. Among authors: sass jo. J Inherit Metab Dis. 2008 Jun;31(3):395-8. doi: 10.1007/s10545-008-0796-y. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392751
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.
Sass JO, Kishikawa M, Puttinger R, Reiss J, Erwa W, Shimizu A, Sperl W. Sass JO, et al. J Inherit Metab Dis. 2003;26(1):80-2. doi: 10.1023/a:1024091900547. J Inherit Metab Dis. 2003. PMID: 12872846 No abstract available.
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N. Fukao T, et al. Among authors: sass jo. Biochim Biophys Acta. 2011 May;1812(5):619-24. doi: 10.1016/j.bbadis.2011.01.015. Epub 2011 Feb 2. Biochim Biophys Acta. 2011. PMID: 21296660
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW. Shafqat N, et al. Among authors: sass jo. J Inherit Metab Dis. 2013 Nov;36(6):983-7. doi: 10.1007/s10545-013-9589-z. Epub 2013 Feb 19. J Inherit Metab Dis. 2013. PMID: 23420214 Free PMC article.
Disorders of the degradation of branched chain amino acids: what is new in clinics and laboratories?
Sass JO. Sass JO. J Inherit Metab Dis. 2012 Jan;35(1):1. doi: 10.1007/s10545-011-9420-7. Epub 2011 Dec 3. J Inherit Metab Dis. 2012. PMID: 22139495 No abstract available.
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T. Otsuka H, et al. Among authors: sass jo. Mol Med Rep. 2016 Nov;14(5):4906-4910. doi: 10.3892/mmr.2016.5819. Epub 2016 Oct 10. Mol Med Rep. 2016. PMID: 27748876
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
Mayr SJ, Sass JO, Vry J, Kirschner J, Mader I, Hövener JB, Reiss J, Santamaria-Araujo JA, Schwarz G, Grünert SC. Mayr SJ, et al. Among authors: sass jo. J Inherit Metab Dis. 2018 Mar;41(2):187-196. doi: 10.1007/s10545-018-0138-7. Epub 2018 Jan 24. J Inherit Metab Dis. 2018. PMID: 29368224
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