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Number of items: 42.

Steinmann, B; Santer, R (2016). Disorders of fructose metabolism. In: Saudubray, J M; Baumgartner, M R; Walters, J. Inborn Metabolic Diseases-Diagnosis and Treatment. Berlin Heidelberg: Springer, Berlin, 161-168.

Salomone, A; Baumgartner, M R; Lombardo, T; Alladio, E; Di Corcia, D; Vincenti, M (2016). Effects of various sample pretreatment procedures on ethyl glucuronide quantification in hair samples: Comparison of positivity rates and appraisal of cut-off values. Forensic Science International, 267:60-65.

Salomone, A; Tsanaclis, L; Agius, R; Kintz, P; Baumgartner, M R (2016). European guidelines for workplace drug and alcohol testing in hair. Drug Testing and Analysis, 8(10):996-1004.

Staubli, G; Baumgartner, M R; Sass, J O; Hersberger, M (2016). Laughing gas in pediatric emergency department-fun for all participants: Vitamin B12 status among medical staff working with nitrous oxide. Pediatric Emergency Care, 32(12):827-829.

Burda, P; Kuster, A; Hjalmarson, O; Suormala, T; Bürer, C; Lutz, S; Roussey, G; Christa, L; Asin-Cayuela, J; Kollberg, G; Andersson, B A; Watkins, D; Rosenblatt, D S; Fowler, B; Holme, E; Froese, D S; Baumgartner, M R (2015). Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. Journal of Inherited Metabolic Disease, 38(5):863-872.

Hochuli, M; Baumgartner, M R; Spinas, G A (2015). Angeborene Stoffwechselkrankheiten in der Erwachsenenmedizin. Swiss Medical Forum, 5051(15):1176-1178.

Hulka, Lea M; Vonmoos, Matthias; Preller, Katrin H; Baumgartner, M R; Seifritz, E; Gamma, A; Quednow, Boris B (2015). Changes in cocaine consumption are associated with fluctuations in self-reported impulsivity and gambling decision-making. Psychological Medicine, 45(14):3097-3110.

Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, M A; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, A S; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, F J; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, M R (2015). Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. Journal of Inherited Metabolic Disease, 38(5):957-967.

Hulka, L M; Eisenegger, C; Preller, K H; Vonmoos, M; Jenni, D; Bendrick, K; Baumgartner, M R; Seifritz, E; Quednow, Boris B (2014). Altered social and non-social decision-making in recreational and dependent cocaine users. Psychological Medicine, 44(05):1015-1028.

Thiele, Isa; Popper, Iva; Baumgartner, M R; Haag-Dawoud, M (2014). Einhaltung einer Abstinenz bei Methadonsubstituierten: eine retrospektive Studie in der Abteilung Verkehrsmedizin und Forensische Psychiatrie des Instituts für Rechtsmedizin der Universität Zürich. Blutalkohol, 51(5):257-267.

Preller, Katrin H; Hulka, Lea M; Vonmoos, M; Jenni, D; Baumgartner, M R; Seifritz, E; Dziobek, I; Quednow, Boris B (2014). Impaired emotional empathy and related social network deficits in cocaine users. Addiction Biology, 19(3):452-466.

Hulka, Lea M; Treyer, V; Scheidegger, M; Preller, Katrin H; Vonmoos, M; Baumgartner, M R; Johayem, A; Ametamey, S M; Buck, A; Seifritz, E; Quednow, Boris B (2014). Smoking but not cocaine use is associated with lower cerebral metabotropic glutamate receptor 5 density in humans. Molecular Psychiatry, 19(5):625-632.

Pianta, A; Liniger, B; Baumgartner, M R (2013). Ethyl glucuronide in scalp and non-head hair: An intra-individual comparison. Alcohol and Alcoholism, 48(3):295-302.

Preller, Katrin H; Ingold, Nina; Hulka, Lea M; Vonmoos, Matthias; Jenni, Daniela; Baumgartner, M R; Vollenweider, F X; Quednow, Boris B (2013). Increased sensorimotor gating in recreational and dependent cocaine users is modulated by craving and attention-deficit/hyperactivity disorder symptoms. Biological Psychiatry, 73(3):225-234.

Haarmann, A; Mayr, M; Kölker, S; Baumgartner, E R; Schnierda, J; Hopfer, H; Devuyst, O; Baumgartner, M R (2013). Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up. Molecular Genetics and Metabolism, 110(4):472-476.

Kraus, J P; Spector, E; Venezia, S; Estes, P; Chiang, P W; Creadon-Swindell, G; Müllerleile, S; de Silva, L; 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 (2012). Mutation analysis in 54 propionic acidemia patients. Journal of Inherited Metabolic Disease, 35(1):51-63.

Grünert, S C; Müllerleile, S; de Silva, L; 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; Sperl, W; Kraus, J P; Superti-Furga, A; Schwab, K O; Sass, J O (2012). Propionic acidemia: neonatal versus selective metabolic screening. Journal of Inherited Metabolic Disease, 35(1):41-49.

Morscher, R J; Grünert, S C; Bürer, C; Burda, P; Suormala, T; Fowler, B; Baumgartner, M R (2012). A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. Molecular Genetics and Metabolism, 105(4):602-606.

Baumgartner, M R; Suormala, T (2012). Biotin-responsive disorders. In: Saudubray, J M; van den Berghe, G; Walter, J H. Inborn metabolic diseases: diagnosis and treatment (5th ed.). Berlin, DE: Springer, 375-384.

Baumgartner, M R; Valle, D (2012). Disorders of ornithine metabolism. In: Saudubray, J M; van den Berghe, G; Walter, J H. Inborn metabolic diseases: diagnosis and treatment (5th ed.). Berlin, DE: Springer, 323-332.

Guven, A; Cebeci, N; Dursun, A; Aktekin, E H; Baumgartner, M R; Fowler, B (2012). Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. Pediatric Diabetes, 13(6):e22-5.

Zimmermann, M; Jacobs, P; Fingerhut, R; Torresani, T; Thöny, B; Blau, N; Baumgartner, M R; Rohrbach, M (2012). Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Molecular Genetics and Metabolism, 106(3):264-268.

Martinelli, D; Häberle, J; Rubio, V; Giunta, C; Hausser, I; Carrozzo, R; Gougeard, N; Marco-Marín, C; Goffredo, B M; Meschini, M C; Bevivino, E; Boenzi, S; Colafati, G S; Brancati, F; Baumgartner, M R; Dionisi-Vici, C (2012). Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. Journal of Inherited Metabolic Disease, 35(5):761-776.

Barben, J; Torresani, T; Schöni, M H; Gallati, S; Baumgartner, M R (2011). Neugeborenen-Screening auf Cystische Fibrose – ab Januar 2011 auch in der Schweiz. Schweizerische Ärztezeitung, 92(1/2):18-20.

Traber, G; Baumgartner, M R; Schwarz, U; Pangalu, A; Donath, M Y; Landau, K (2011). Subacute bilateral visual loss in methylmalonic acidemia. Journal of Neuro-Ophthalmology, 31(4):344-346.

Rohrbach, M; Klein, A; Köhli-Wiesner, A; Veraguth, D; Scheer, I; Balmer, C; Lauener, R; Baumgartner, M R (2010). CRIM-negative infantile Pompe disease: 42-month treatment outcome. Journal of Inherited Metabolic Disease, 33(6):751-757.

Seminara, J; Tuchman, M; Krivitzky, L; Krischer, J; Lee, H S; Lemons, C; Baumgartner, M R; Cederbaum, S; Diaz, G A; Feigenbaum, A; Gallagher, R C; Harding, O; Kerr, D S; Lanpher, B; Lee, B; Lichter-Konecki, U; McCandless, E; Merritt, J L; Oster-Granite, M L; Seashore, M R; Stricker, T; Summar, M; Waisbren, S; Yudkoff, M; Batshaw, M L (2010). Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Molecular Genetics and Metabolism, 100(Sup 1):S97-S105.

Krafft, P; Rakic, S; Seitler, C; Baumgartner, M R; Mattle, E; Hangartner, P J (2010). Kongenitale Ursache einer schweren Rhabdomyolyse. Swiss Medical Forum, 10(16):290-293.

Fingerhut, R; De Jesus Silva Arevalo, G; Baumgartner, M R; Häberle, J; Rohrbach, M; Figueroa, A W; Fresse, E M; Polanco, O L; Torresani, T (2010). Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples. Journal of Inherited Metabolic Disease, 33(Sup 2):S235-S239.

Stucki, M; Suormala, T; Fowler, B; Valle, D; Baumgartner, M R (2009). Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. Journal of Biological Chemistry, 284(42):28953-28957.

Hörster, F; Garbade, S F; Zwickler, T; Aydin, H I; Bodamer, O A; Burlina, A B; Das, A M; De Klerk, J B; Dionisi-Vici, C; Geb, S; Gökcay, G; Guffon, N; Maier, E M; Morava, E; Walter, J H; Schwan, B; Wijburg, F A; Lindner, M; Grünewald, S; Baumgartner, M R; Kölker, S (2009). Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. Journal of Inherited Metabolic Disease, 32(5):630-639.

Wraith, J E; Baumgartner, M R; Bembi, B; Covanis, A; Levade, T; Mengel, E; Pineda, M; Sedel, F; Topçu, M; Vanier, M T; Widner, H; Wijburg, F A; Patterson, M C (2009). Recommendations on the diagnosis and management of Niemann-Pick disease type C. Molecular Genetics and Metabolism, 98(1-2):152-165.

Spiekerkoetter, U; Lindner, M; Santer, R; Grotzke, M; Baumgartner, M R; Boehles, H; Das, A; Haase, C; Hennermann, J B; Karall, D; de Klerk, H; Knerr, I; Koch, H G; Plecko, B; Röschinger, W; Schwab, K O; Scheible, D; Wijburg, F A; Zschocke, J; Mayatepek, E; Wendel, U (2009). Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. Journal of Inherited Metabolic Disease, 32(4):488-497.

Spiekerkoetter, U; Lindner, M; Santer, R; Grotzke, M; Baumgartner, M R; Boehles, H; Das, A; Haase, C; Hennermann, J B; Karall, D; de Klerk, H; Knerr, I; Koch, H G; Plecko, B; Röschinger, W; Schwab, K O; Scheible, D; Wijburg, F A; Zschocke, J; Mayatepek, E; Wendel, U (2009). Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. Journal of Inherited Metabolic Disease, 32(4):498-505.

Lerner-Ellis, J P; Anastasio, N; Liu, J; Coelho, D; Suormala, T; Stucki, M; Loewy, A D; Gurd, S; Grundberg, E; Morel, C F; Watkins, D; Baumgartner, M R; Pastinen, T; Rosenblatt, D S; Fowler, B (2009). Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Human Mutation, 30(7):1072-1081.

Eminoglu, F T; Ozcelik, A A; Okur, I; Tumer, L; Biberoglu, G; Demir, E; Hasanoglu, A; Baumgartner, M R (2009). 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. Journal of Child Neurology, 24(4):478-481.

Papageorgopoulou, C; Xirotiris, N I; Iten, P X; Baumgartner, M R; Schmid, M; Rühle, F (2009). Indications of embalming in Roman Greece by physical, chemical and histological analysis. Journal of Archaeological Science, 36(1):35-42.

Coelho, D; Suormala, T; Stucki, M; Lerner-Ellis, J P; Rosenblatt, D S; Newbold, R F; Baumgartner, M R; Fowler, B (2008). Gene identification for the cblD defect of vitamin B12 metabolism. New England Journal of Medicine, 358(14):1454-1464.

Badertscher, A; Bauersfeld, U; Arbenz, U; Baumgartner, M R; Schinzel, A; Balmer, C (2008). Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatrica, 97(11):1523-1528.

Fowler, B; Leonard, J V; Baumgartner, M R (2008). Causes of and diagnostic approach to methylmalonic acidurias. Journal of Inherited Metabolic Disease, 31(3):350-360.

Zwickler, T; Lindner, M; Aydin, H I; Baumgartner, M R; Bodamer, O A; Burlina, A B; Das, A M; DeKlerk, J B C; Gökcay, G; Grünewald, S; Guffon, N; Maier, E M; Morava, E; Geb, S; Schwahn, B; Walter, J H; Wendel, U; Wijburg, F A; Müller, E; Kölker, S; Hörster, F (2008). Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. Journal of Inherited Metabolic Disease, 31(3):361-367.

Jäggi, L; Zurflüh, M R; Schuler, A; Ponzone, A; Porta, F; Fiori, L; Giovannini, M; Santer, R; Hoffmann, G F; Ibel, H; Wendel, U; Ballhausen, D; Baumgartner, M R; Blau, N (2008). Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Molecular Genetics and Metabolism, 93(3):295-305.

This list was generated on Sun Oct 22 16:13:46 2017 CEST.