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All-trans-retinoyl-beta-glucuronide is a potent teratogen in the mouse because of extensive metabolism to all-trans-retinoic acid
(1996)
Nau, H.
;
Elmazar, M. M.
;
Rühl, R.
;
Thiel, R.
;
Sass, J. O.
Characterization of acylpeptide hydrolase sequence variants -potential implications for valproic acid efficacy and Alzheimer’s disease
(2018)
Korwitz-Reichelt, A.
;
Tsortouktzidis, D.
;
Grundke, K.
;
Sass, J. O.
Comparative studies on effects of all-trans-retinoic acid and all-trans-retinoyl-beta-d-glucuronide on the development of foetal mouse thymus in an organ culture system
(1996)
Foerster, M.
;
Sass, J. O.
;
Rühl, R.
;
Nau, H.
Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening
(2010)
Höliner, I.
;
Simma, B.
;
Reiter, A.
;
Sass, J. O.
;
Zschocke, J.
;
Huemer, M.
Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects
(2000)
Skladal, D.
;
Sass, J. O.
;
Geiger, H.
;
Geiger, R.
;
Mann, C.
;
Vreken, P.
;
Wanders, R. J.
;
Trawöger, R.
Cyclophosphamide is a highly effective and safe induction therapy in chronic periaortitis: a long-term follow-up of 35 patients with chronic periaortitis
(2012)
Binder, M.
;
Uhl, M.
;
Wiech, T.
;
Kollert, F.
;
Thiel, J.
;
Sass, J. O.
;
Walker, U. A.
;
Peter, H. H.
;
Warnatz, K.
Deciphering novel functions of aminoacylases
(2018)
Klaas, L.
;
Sass, J. O.
Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD
(2010)
van Kuilenburg, A. B. P.
;
Meijer, J.
;
Gökcay, G.
;
Baykal, T.
;
Rubio-Gozalbo, M. E.
;
Mul, A. N. P. M.
;
Die-Smulders, C. E. M. de
;
Weber, P.
;
Mori, A. Capone
;
Bierau, J.
;
Fowler, B.
;
Macke, K.
;
Sass, J. O.
;
Meinsma, R.
;
Hennermann, J. B.
;
Miny, P.
;
Zoetekouw, L.
;
Roelofsen, J.
;
Vijzelaar, R.
;
Nicolai, J.
;
Hennekam, R. C. M.
Disorders of ketone body transport and utilization as a cause of recurrent metabolic acidosis: succinyl-coenzyme A: 3-oxoacyl coenzyme A transferase (SCOT) deficiency (mutations in the OXCT1 gene) and monocarboxylate transporter 1 (MCT1) deficiency
(2019)
Roloff, S.
;
Stübbe, L.
;
Gemperle-Britschgi, C.
;
Yamamoto, R.
;
Hennermann, J.
;
Weinhold, N.
;
Sass, J. O.
Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I
(2000)
Sass, J. O.
;
Skladal, D.
Glucuronidation and isomerization of all-trans- and 13-cis-retinoic acid by liver microsomes of phenobarbital- or 3-methylcholanthrene-treated rats
(1994)
Sass, J. O.
;
Forster, A.
;
Bock, K. W.
;
Nau, H.
Human D-glycerate kinase is a mitochondrial protein
(2018)
Korwitz-Reichelt, A.
;
Walter, M.
;
Sass, J. O.
Human isotretinoin metabolism during indinavir therapy
(2000)
Sass, J. O.
;
Padberg, J.
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency
(2003)
Sass, J. O.
;
Kishikawa, M.
;
Puttinger, R.
;
Reiss, J.
;
Erwa, W.
;
Shimizu, A.
;
Sperl, W.
Identification of 9,13-dicis-retinoic acid as a major plasma metabolite of 9-cis-retinoic acid and limited transfer of 9-cis-retinoic acid and 9,13-dicis-retinoic acid to the mouse and rat embryos
(1994)
Tzimas, G.
;
Sass, J. O.
;
Wittfoht, W.
;
Elmazar, M. M.
;
Ehlers, K.
;
Nau, H.
Increased CSF cortisol in AD is a function of APOE genotype
(2001)
Sass, J. O.
;
Heinz-Erian, P.
;
Högler, W.
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants
(2004)
Sass, J. O.
;
Sander, S.
;
Zschocke, J.
L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings
(2008)
Haliloglu, G.
;
Jobard, F.
;
Oguz, K. K.
;
Anlar, B.
;
Akalan, N.
;
Coskun, T.
;
Sass, J. O.
;
Fischer, J.
;
Topcu, M.
L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene
(2008)
Sass, J. O.
;
Jobard, F.
;
Topçu, M.
;
Mahfoud, A.
;
Werlé, E.
;
Cure, S.
;
Al-Sannaa, N.
;
Alshahwan, S. A.
;
Bataillard, M.
;
Cimbalistiene, L.
;
Grolik, C.
;
Kemmerich, V.
;
Omran, H.
;
Sztriha, L.
;
Tabache, M.
;
Fischer, J.
Mechanisms of brain injury in infantile child abuse
(2001)
Sass, J. O.
;
Crazzolara, R.
;
Heinz-Erian, P.
Metabolism of topical retinaldehyde and retinol by mouse skin in vivo: predominant formation of retinyl esters and identification of 14-hydroxy-4, 14-retro-retinol
(1996)
Sass, J. O.
;
Didierjean, L.
;
Carraux, P.
;
Plum, C.
;
Nau, H.
;
Saurat, J. H.
Methionine loading in a Down's syndrome patient with cerebral infarction
(1999)
Sass, J. O.
;
Skladal, D.
;
Viertler, E.
Mutation analysis in 54 propionic acidemia patients
(2012)
Kraus, J. P.
;
Spector, E.
;
Venezia, S.
;
Estes, P.
;
Chiang, P. W.
;
Creadon-Swindell, G.
;
Müllerleile, S.
;
Silva, L. de
;
Barth, M.
;
Walter, M.
;
Walter, K.
;
Meissner, T.
;
Lindner, M.
;
Ensenauer, R.
;
Santer, R.
;
Bodamer, O. A.
;
Baumgartner, M. R.
;
Brunner-Krainz, M.
;
Karall, D.
;
Haase, C.
;
Knerr, I.
;
Marquardt, T.
;
Hennermann, J. B.
;
Steinfeld, R.
;
Beblo, S.
;
Koch, H. G.
;
Konstantopoulou, V.
;
Scholl-Bürgi, S.
;
van Teeffelen-Heithoff, A.
;
Suormala, T.
;
Ugarte, M.
;
Sperl, W.
;
Superti-Furga, A.
;
Schwab, K. O.
;
Grünert, S. C.
;
Sass, J. O.
Neurological findings in aminoacylase 1 deficiency
(2007)
Sass, J. O.
;
Olbrich, H.
;
Mohr, V.
;
Hart, C.
;
Woldseth, B.
;
Krywawych, S.
;
Bjurulf, B.
;
Lakhani, P. K.
;
Buchdahl, R. M.
;
Omran, H.
Odd-numbered long-chain fatty acids in propionic acidaemia
(2000)
Sperl, W.
;
Murr, C.
;
Skladal, D.
;
Sass, J. O.
;
Suormala, T.
;
Baumgartner, R.
;
Wendel, U.
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