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Number of items: 26.

Grünert, Sarah Catharina; Schmitt, Robert Niklas; Schlatter, Sonja Marina; Gemperle-Britschgi, Corinne; Balcı, Mehmet Cihan; Berg, Volker; Çoker, Mahmut; Das, Anibh M; Demirkol, Mübeccel; Derks, Terry G.J; Gökçay, Gülden; Uçar, Sema Kalkan; Konstantopoulou, Vassiliki; Korenke, G Christoph; Lotz-Havla, Amelie Sophia; Schlune, Andrea; Staufner, Christian; Tran, Christel; Visser, Gepke; Schwab, Karl Otfried; Fukao, Toshiyuki; Sass, Jörn Oliver (2017). Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Molecular Genetics and Metabolism, 122(1-2):67-75.

Grünert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrázová, Lenka; Balcı, Mehmet Cihan; Bischof, Felix; Çoker, Mahmut; Das, Anibh M; Demirkol, Mübeccel; de Vries, Maaike; Gökçay, Gülden; Häberle, Johannes; Uçar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Lücke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, René; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A; Sass, Jörn Oliver (2017). 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. Molecular Genetics and Metabolism, 121(3):206-215.

Grahammer, Florian; Ramakrishnan, Suresh K; Rinschen, Markus M; Larionov, Alexey A; Syed, Maryam; Khatib, Hazim; Roerden, Malte; Sass, Jörn Oliver; Helmstaedter, Martin; Osenberg, Dorothea; Kühne, Lucas; Kretz, Oliver; Wanner, Nicola; Jouret, Francois; Benzing, Thomas; Artunc, Ferruh; Huber, Tobias B; Theilig, Franziska (2017). mTOR regulates endocytosis and nutrient transport in proximal tubular cells. Journal of the American Society of Nephrology (JASN), 28(1):230-241.

Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo-Graovac, Maja; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur; Faqeih, Eissa Ali; García Segarra, Nuria; Geraghty, Michael T; Jåtun, Bjørn Magne; Kalkan Uçar, Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S; van Karnebeek, Clara D M (2016). Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Molecular Genetics and Metabolism, 119(1-2):44-49.

Sass, Jörn Oliver; Vaithilingam, Jathana; Gemperle-Britschgi, Corinne; Delnooz, Cathérine C S; Kluijtmans, Leo A J; van de Warrenburg, Bart P C; Wevers, Ron A (2016). Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia. Metabolic brain disease, 31(3):587-592.

Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel; Vogt, Bruno; Sass, Jörn Oliver; Kloeckener-Gruissem, Barbara; Fuster, Daniel G (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria. Journal of the American Society of Nephrology (JASN), 27(5):1426-1436.

Demir Köse, Melis; Canda, Ebru; Kağnıcı, Mehtap; İşgüder, Rana; Ünalp, Aycan; Kalkan Uçar, Sema; Bahr, Luzy; Britschgi, Corinne; Sass, Jörn Oliver; Çoker, Mahmut (2016). Two siblings with beta-ketothiolase deficiency: one genetic defect two different pictures. Journal of Pediatric Research, 3(2):113-116.

Balasubramaniam, Shanti; Lewis, Barry; Greed, Lawrence; Meili, David; Flier, Annegret; Yamamoto, Raina; Bilić, Karmen; Till, Claudia; Sass, Jörn Oliver (2015). Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis. JIMD Reports, 29:33-38.

Reuter, Miriam S; Sass, Jörn Oliver; Leis, Thomas; Köhler, Julia; Mayr, Johannes A; Feichtinger, René G; Rauh, Manfred; Schanze, Ina; Bähr, Luzy; Trollmann, Regina; Uebe, Steffen; Ekici, Arif B; Reis, André (2014). HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. American Journal of Medical Genetics. Part A, 164(12):3162-3169.

Kovacs, Zsofia; Werner, Beat; Rassi, Anahita; Sass, Jörn Oliver; Martin-Fiori, Ernst; Bernasconi, Michele (2014). Prolonged survival upon ultrasound-enhanced doxorubicin delivery in two syngenic glioblastoma mouse models. Journal of Controlled Release, 187:74-82.

Fukao, Toshiyuki; Mitchell, Grant; Sass, Jörn Oliver; Hori, Tomohiro; Orii, Kenji; Aoyama, Yuka (2014). Ketone body metabolism and its defects. Journal of Inherited Metabolic Disease, 37(4):541-551.

Laemmle, Alexander; Balmer, Christian; Doell, Carsten; Sass, Jörn Oliver; Häberle, Johannes; Baumgartner, Matthias R (2014). Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. European Journal of Pediatrics, 173(7):971-974.

Torrente, Marta; Guetg, Adriano; Sass, Jörn Oliver; Arps, Lisa; Ruckstuhl, Lisa; Camargo, Simone M R; Verrey, François (2014). Amino acids regulate transgene expression in MDCK cells. PLoS ONE, 9(5):e96823.

Sass, Jörn Oliver; Grünert, Sarah C (2014). Disorders of Ketone Body Metabolism. In: Blau, N; Duran, Marinus; Gibson, K M; Dionisi-Vici, Carlo. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Heidelberg: Springer-Verlag Berlin, 361-371.

Sass, Jörn Oliver; Baumgartner, M (2013). Inborn errors of cobalamin absorption, transport and metabolism. In: ACTA Pediátrica Española, Congreso nacional de Errores Congénitos del Metabolismo, 1 September 2013 - 2 September 2013, 18-21.

Wortmann, Saskia B; Kluijtmans, Leo A J; Rodenburg, Richard J; Sass, Jörn Oliver; Nouws, Jessica; van Kaauwen, Edwin P; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; de Vries, Maaike C; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S; Smuts, Izelle; Reinecke, Carolus J; van der Westhuizen, Francois H; Thorburn, David; Smeitink, Jan A M; Morava, Eva; Wevers, Ron A (2013). 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. Journal of Inherited Metabolic Disease, 36(6):913-921.

Shafqat, Naeem; Kavanagh, Kate L; Sass, Jörn Oliver; Christensen, Ernst; Fukao, Toshiyuki; Lee, Wen Hwa; Oppermann, Udo; Yue, Wyatt W (2013). A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Journal of Inherited Metabolic Disease, 36(6):983-987.

Grünert, Sarah C; Brichta, Corinna M; Krebs, Andreas; Clement, Hans-Willi; Rauh, Reinhold; Fleischhaker, Christian; Hennighausen, Klaus; Sass, Jörn Oliver; Schwab, K Otfried (2013). Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations. Nutrition Journal, 12:60.

Houten, Sander M; Te Brinke, Heleen; Denis, Simone; Ruiter, Jos Pn; Knegt, Alida C; de Klerk, Johannis Bc; Augoustides-Savvopoulou, Persephone; Häberle, Johannes; Baumgartner, Matthias R; Coşkun, Turgay; Zschocke, Johannes; Sass, Jörn Oliver; Poll-The, Bwee Tien; Wanders, Ronald Ja; Duran, Marinus (2013). Genetic basis of hyperlysinemia. Orphanet Journal of Rare Diseases, 8:57.

Del Rizzo, Monica; Burlina, Alessandro P; Sass, Jörn Oliver; Beermann, Frauke; Zanco, Chiara; Cazzorla, Chiara; Bordugo, Andrea; Giordano, Laura; Manara, Renzo; Burlina, Alberto B (2013). Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. Molecular Genetics and Metabolism, 108(4):263-266.

Grünert, Sarah C; Villavicencio-Lorini, Pablo; Wermuth, Bendicht; Lehnert, Willy; Sass, Jörn Oliver; Schwab, K Otfried (2013). Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. Journal of Diabetes & Metabolic Disorders, 12:37.

Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver (2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases, 8:6.

Sass, Jörn Oliver; Plecko-Startinig, Barbara (2013). Sulfite oxidase deficiency / Molybdenum cofactor deficiency and epilepsy. In: Pearl, Phillip L. Inherited Metabolic Epilepsies. New York: Demos Medical Publishing, 247-252.

Sommer, Anke; Sass, Jörn Oliver (2012). Expression of aspartoacylase (ASPA) and Canavan disease. Gene, 505(2):206-210.

van Weeghel, Michel; Te Brinke, Heleen; van Lenthe, Henk; Kulik, Wim; Minkler, Paul E; Stoll, Maria S K; Sass, Jörn Oliver; Janssen, Uwe; Stoffel, Wilhelm; Schwab, K Otfried; Wanders, Ronald J A; Hoppel, Charles L; Houten, Sander M (2012). Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids. FASEB Journal, 26(10):4316-4326.

Nakamura, Makiko; Yuichiro, Yamaguchi; Sass, Jörn Oliver; Tomohiro, Matsumura; Schwab, Karl Otfried; Takeshi, Nishino; Tatsuo, Hosoya; Ichida, Kimiyoshi (2012). Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. Clinica Chimica Acta, 414C:158-160.

This list was generated on Sat Aug 18 05:25:29 2018 CEST.