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Number of items: 47.

Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1):21-48.

Bassila, Christine; Ghemrawi, Rose; Flayac, Justine; Froese, D Sean; Baumgartner, Matthias R; Guéant, Jean-Louis; Coelho, David (2017). Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC. BBA - Biochimica et Biophysica Acta, 1863(1):103-112.

Burda, Patricie; Suormala, Terttu; Heuberger, Dorothea; Schäfer, Alexandra; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2017). Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. Journal of Inherited Metabolic Disease, 40(2):297-306.

Adrovic, Amra; Canpolat, Nur; Caliskan, Salim; Sever, Lale; Kıykım, Ertugrul; Agbas, Ayse; Baumgartner, Matthias R (2016). Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC. Pediatrics International, 58(8):763-765.

Forny, Patrick; Schnellmann, Anne-Sophie; Buerer, Celine; Lutz, Seraina; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2016). Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Human Mutation, 37(8):745-754.

Tarailo-Graovac, Maja; Shyr, Casper; Ross, Colin J; Horvath, Gabriella A; Salvarinova, Ramona; Ye, Xin C; Zhang, Lin-Hua; Bhavsar, Amit P; Lee, Jessica J Y; Drögemöller, Britt I; Abdelsayed, Mena; Alfadhel, Majid; Armstrong, Linlea; Baumgartner, Matthias R; Burda, Patricie; Connolly, Mary B; Cameron, Jessie; Demos, Michelle; Dewan, Tammie; Dionne, Janis; Evans, A Mark; Friedman, Jan M; Garber, Ian; Lewis, Suzanne; Ling, Jiqiang; Mandal, Rupasri; Mattman, Andre; McKinnon, Margaret; Michoulas, Aspasia; Metzger, Daniel; et al (2016). Exome sequencing and the management of neurometabolic disorders. New England Journal of Medicine, 374(23):2246-2255.

Forny, Patrick; Schumann, Anke; Mustedanagic, Merima; Mathis, Déborah; Wulf, Marie-Angela; Nägele, Nadine; Langhans, Claus-Dieter; Zhakupova, Assem; Heeren, Joerg; Scheja, Ludger; Fingerhut, Ralph; Peters, Heidi L; Hornemann, Thorsten; Thony, Beat; Kölker, Stefan; Burda, Patricie; Froese, D Sean; Devuyst, Olivier; Baumgartner, Matthias R (2016). Novel mouse models of methylmalonic aciduria recapitulate phenotypic traits with a genetic dosage effect. Journal of Biological Chemistry, 291(39):20563-20573.

Froese, D Sean; Huemer, Martina; Suormala, Terttu; Burda, Patricie; Coelho, David; Guéant, Jean-Louis; Landolt, Markus A; Kožich, Viktor; Fowler, Brian; Baumgartner, Matthias R (2016). Mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Human Mutation, 37(5):427-438.

Zschocke, Johannes; Baumgartner, Matthias R; Morava, Eva; Patterson, Marc C; Peters, Verena; Rahman, Shamima (2016). Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest. Journal of Inherited Metabolic Disease, 39(3):327-329.

Zeltner, Nina A; Landolt, Markus A; Baumgartner, Matthias R; Lageder, Sarah; Quitmann, Julia; Sommer, Rachel; Karall, Daniela; Mühlhausen, Chris; Schlune, Andrea; Scholl-Bürgi, Sabine; Huemer, Martina (2016). Living with intoxication-type inborn errors of metabolism: a qualitative analysis of interviews with paediatric patients and their parents. JIMD Reports, 31:1-9.

Trefz, Friedrich K; Scheible, Dagmar; Frauendienst-Egger, Georg; Huemer, Martina; Suomala, Terttu; Fowler, Brian; Haas, Dorothea; Baumgartner, Matthias R (2016). Successful intrauterine treatment of a patient with cobalamin C defect. Molecular Genetics and Metabolism Reports, 6:55-59.

Hollak, Carla E M; Biegstraaten, Marieke; Baumgartner, Matthias R; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Brouwers, Martijn; Dekker, Hanka; Dobbelaere, Dries; Engelen, Marc; Groenendijk, Marike C; Lachmann, Robin; Langendonk, Janneke G; Langeveld, Mirjam; Linthorst, Gabor; Morava, Eva; Poll-The, Bwee Tien; Rahman, Shamima; Rubio-Gozalbo, M Estela; Spiekerkoetter, Ute; Treacy, Eileen; Wanders, Ronald; Zschocke, Johannes; Hagendijk, Rob (2016). Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Orphanet Journal of Rare Diseases, 11(7):online.

Jamiolkowski, Dagmar; Kölker, Stefan; Glahn, Esther M; Barić, Ivo; Zeman, Jiri; Baumgartner, Matthias R; Mühlhausen, Chris; Garcia-Cazorla, Angels; Gleich, Florian; Haege, Gisela; Burgard, Peter (2016). Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. Journal of Inherited Metabolic Disease, 39(2):231-241.

Laemmle, Alexander; Gallagher, Renata C; Keogh, Adrian; Stricker, Tamar; Gautschi, Matthias; Nuoffer, Jean-Marc; Baumgartner, Matthias R; Häberle, Johannes (2016). Frequency and pathophysiology of acute liver failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS ONE, 11(4):e0153358.

Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M; Wijburg, Frits A; Freisinger, Peter; Barić, Ivo; Baumgartner, Matthias R; Burgard, Peter; Burlina, Alberto B; Chapman, Kimberly A; I Saladelafont, Elisenda Cortès; Karall, Daniela; Mühlhausen, Chris; Riches, Victoria; Schiff, Manuel; Sykut-Cegielska, Jolanta; Walter, John H; Zeman, Jiri; Chabrol, Brigitte; Kölker, Stefan (2016). Impact of age at onset and newborn screening on outcome in organic acidurias. Journal of Inherited Metabolic Disease, 39(3):341-353.

Rahman, Shamima; Baumgartner, Matthias R; Morava, Eva; Patterson, Marc; Peters, Verena; Zschocke, Johannes (2016). Peer review fraud-it's not big and it's not clever. Journal of Inherited Metabolic Disease, 39(1):1-2.

Froese, D Sean; Kopec, Jolanta; Fitzpatrick, Fiona; Schuller, Marion; McCorvie, Thomas J; Chalk, Rod; Plessl, Tanja; Fettelschoss, Victoria; Fowler, Brian; Baumgartner, Matthias R; Yue, Wyatt W (2015). Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B12 trafficking. Journal of Biological Chemistry, 290(49):29167-29177.

Huemer, Martina; Kožich, Viktor; Rinaldo, Piero; Baumgartner, Matthias R; Merinero, Begoña; Pasquini, Elisabetta; Ribes, Antonia; Blom, Henk J (2015). Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. Journal of Inherited Metabolic Disease, 38(6):1007-1019.

Morava, Eva; Rahman, Shamima; Peters, Verena; Baumgartner, Matthias R; Patterson, Marc; Zschocke, Johannes (2015). Quo vadis: the re-definition of "inborn metabolic diseases". Journal of Inherited Metabolic Disease, 38(6):1003-1006.

Hochuli, Michel; Christ, Emanuel; Meienberg, Fabian; Lehmann, Roger; Krützfeldt, Jan; Baumgartner, Matthias R (2015). Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. Journal of Inherited Metabolic Disease, 38(6):1093-1098.

Burda, Patricie; Schäfer, Alexandra; Suormala, Terttu; Rummel, Till; Bürer, Céline; Heuberger, Dorothea; Frapolli, Michele; Giunta, Cecilia; Sokolová, Jitka; Vlášková, Hana; Kožich, Viktor; Koch, Hans Georg; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2015). Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Human Mutation, 36(6):611-621.

Klinke, Glynis; Rohrbach, Marianne; Giugliani, Roberto; Burda, Patricie; Baumgartner, Matthias R; Tran, Christel; Gautschi, Matthias; Mathis, Déborah; Hersberger, Martin (2015). LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Clinical Biochemistry, (48):596-602.

Shepard, Peter J; Barshop, Bruce A; Baumgartner, Matthias R; Hansen, John-Bjarne; Jepsen, Kristen; Smith, Erin N; Frazer, Kelly A (2015). Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genetics in Medicine, 17(8):660-667.

Kölker, Stefan; Dobbelaere, Dries; Häberle, Johannes; Burgard, Peter; Gleich, Florian; Summar, Marshall L; Hannigan, Steven; Parker, Samantha; Chakrapani, Anupam; Baumgartner, Matthias R (2015). Networking across borders for individuals with organic acidurias and urea cycle disorders: the E-IMD consortium. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 29-38.

Lindert, Uschi; Kraenzlin, Marius; Campos-Xavier, Ana Belinda; Baumgartner, Matthias R; Bonafé, Luisa; Giunta, Cecilia; Rohrbach, Marianne (2015). Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta. Orphanet Journal of Rare Diseases, 10(104):online.

Forny, Patrick; Froese, D Sean; Suormala, Terttu; Yue, Wyatt W; Baumgartner, Matthias R (2014). Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl-CoA Mutase (MUT) Deficiency. Human Mutation, 35(12):1449-1458.

Huemer, Martina; Scholl-Bürgi, Sabine; Hadaya, Karine; Kern, Ilse; Beer, Ronny; Seppi, Klaus; Fowler, Brian; Baumgartner, Matthias R; Karall, Daniela (2014). Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy. Orphanet Journal of Rare Diseases, 9:161.

Zeltner, Nina A; Huemer, Martina; Baumgartner, Matthias R; Landolt, Markus A (2014). Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism ¿ a systematic review. Orphanet Journal of Rare Diseases, 9(1):159.

Jusufi, Jehona; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2014). Characterization of functional domains of the cblD (MMADHC) gene product. Journal of Inherited Metabolic Disease, 37(5):841-849.

Baumgartner, Matthias R; Hörster, Friederike; Dionisi-Vici, Carlo; et al; Huemer, Martina; Hochuli, Michel; Fowler, Brian; Sass, Jörn (2014). Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases, 9(130):online.

Ferriero, Rosa; Boutron, Audrey; Brivet, Michele; Kerr, Douglas; Morava, Eva; Rodenburg, Richard J; Bonafé, Luisa; Baumgartner, Matthias R; Anikster, Yair; Braverman, Nancy E; Brunetti-Pierri, Nicola (2014). Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. Annals of Clinical and Translational Neurology, 1(7):462-470.

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.

Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; Santer, René; Spiekerkoetter, Ute; Staufner, Christian; Stricker, Tamar; Wijburg, Frits A; Williams, Monique; Burgard, Peter; Häberle, Johannes (2014). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of Inherited Metabolic Disease, 37(1):21-30.

Batshaw, Mark L; Tuchman, Mendel; Summar, Marshall; Seminara, Jennifer; Baumgartner, Matthias R; Stricker, Tamar (2014). A longitudinal study of urea cycle disorders. Molecular Genetics and Metabolism, 113(1-2):127-130.

Mills, Philippa B; Camuzeaux, Stephane S M; Footitt, Emma J; Mills, Kevin A; Gissen, Paul; Fisher, Laura; Das, Krishna B; Varadkar, Sophia M; Zuberi, Sameer; McWilliam, Robert; Stödberg, Tommy; Plecko, Barbara; Baumgartner, Matthias R; Maier, Oliver; Calvert, Sophie; Riney, Kate; Wolf, Nicole I; Livingston, John H; Bala, Pronab; Morel, Chantal F; Feillet, François; Raimondi, Francesco; Del Giudice, Ennio; Chong, W Kling; Pitt, Matthew; Clayton, Peter T (2014). Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain, 137(5):1350-1360.

Torresani, Toni; Fingerhut, Ralph; Rueegg, Corina S; Gallati, Sabina; Kuehni, Claudia E; Baumgartner, Matthias R; Barben, Juerg (2013). Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study. Journal of Cystic Fibrosis, 12(6):667-674.

Yu, Hung-Chun; Sloan, Jennifer L; Scharer, Gunter; Brebner, Alison; Quintana, Anita M; Achilly, Nathan P; Manoli, Irini; Coughlin, Curtis R; Geiger, Elizabeth A; Schneck, Una; Watkins, David; Suormala, Terttu; Van Hove, Johan L K; Fowler, Brian; Baumgartner, Matthias R; Rosenblatt, David S; Venditti, Charles P; Shaikh, Tamim H (2013). An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. American Journal of Human Genetics, 93(3):506-514.

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.

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.

Mayr, Johannes A; Haack, Tobias B; Graf, Elisabeth; Zimmermann, Franz A; Wieland, Thomas; Haberberger, Birgit; Superti-Furga, Andrea; Kirschner, Janbernd; Steinmann, Beat; Baumgartner, Matthias R; Moroni, Isabella; Lamantea, Eleonora; Zeviani, Massimo; Rodenburg, Richard J; Smeitink, Jan; Strom, Tim M; Meitinger, Thomas; Sperl, Wolfgang; Prokisch, Holger (2012). Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. American Journal of Human Genetics, 90(2):314-320.

Grünert, Sarah C; Stucki, Martin; Morscher, Raphael J; Suormala, Terttu; Bürer, Celine; Burda, Patricie; Christensen, Ernst; Ficicioglu, Can; Herwig, Jürgen; Kölker, Stefan; Möslinger, Dorothea; Pasquini, Elisabetta; Santer, René; Schwab, K Otfried; Wilcken, Bridget; Fowler, Brian; Yue, Wyatt W; Baumgartner, Matthias R (2012). 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases, 7:31.

Stucki, Martin; Coelho, David; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Baumgartner, Matthias R (2012). Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. Human Molecular Genetics, 21(6):1410-1418.

Coelho, David; Kim, Jaeseung C; Miousse, Isabelle R; Fung, Stephen; du Moulin, Marcel; Buers, Insa; Suormala, Terttu; Burda, Patricie; Frapolli, Michele; Stucki, Martin; Nürnberg, Peter; Thiele, Holger; Robenek, Horst; Höhne, Wolfgang; Longo, Nicola; Pasquali, Marzia; Mengel, Eugen; Watkins, David; Shoubridge, Eric A; Majewski, Jacek; Rosenblatt, David S; Fowler, Brian; Rutsch, Frank; Baumgartner, Matthias R (2012). Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. Nature Genetics, 44(10):1152-1155.

Barben, Juerg; Gallati, Sabina; Fingerhut, Ralph; Schoeni, Martin H; Baumgartner, Matthias R; Torresani, Toni (2012). Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland. Journal of Cystic Fibrosis, 11(4):332-336.

Baumgartner, Matthias R (2012). Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. In: Dulac, O; Lassonde, M; Sarnat, H B. Handbook of clinical neurology. Amsterdam: Elsevier, 1799-810.

Tessa, Alessandra; Fiermonte, Giuseppe; Dionisi-Vici, Carlo; Paradies, Eleonora; Baumgartner, Matthias R; Chien, Yin-Hsiu; Loguercio, Carmela; de Baulny, Helene Ogier; Nassogne, Marie-Cecile; Schiff, Manuel; Deodato, Federica; Parenti, Giancarlo; Rutledge, S Lane; Vilaseca, M Antonia; Melone, Mariarosa A B; Scarano, Giocchino; Aldamiz-Echevarría, Luiz; Besley, Guy; Walter, John; Martinez-Hernandez, Eugenia; Hernandez, Jose M; Pierri, Ciro L; Palmieri, Ferdinando; Santorelli, Filippo M (2009). Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. Human Mutation, 30(5):741-748.

Dirik, Eray; Yis, Uluç; Pasaoglu, Güven; Chambaz, Céline; Baumgartner, Matthias R (2008). Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. Brain and Development, 30(3):218-220.

This list was generated on Mon Jul 24 08:03:28 2017 CEST.