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Number of items: 24.

Lee, Jessica J Y; Wasserman, Wyeth W; Hoffmann, Georg F; van Karnebeek, Clara D M; Blau, Nenad (2018). Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism. Genetics in Medicine, 20(1):151-158.

Blau, Nenad; Martinez, Aurora; Hoffmann, Georg F; Thöny, Beat (2018). DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. Molecular Genetics and Metabolism, 123(1):1-5.

van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; Vliet, Danique van; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat (2018). Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. Journal of Medical Genetics, 55(4):249-253.

Burgard, Peter; Ullrich, Kurt; Ballhausen, Diana; Hennermann, Julia B; Hollak, Carla E M; Langeveld, Mirjam; Karall, Daniela; Konstantopoulou, Vassiliki; Maier, Esther M; Lang, Frauke; Lachmann, Robin; Murphy, Elaine; Garbade, Sven; Hoffmann, Georg F; Kölker, Stefan; Lindner, Martin; Zschocke, Johannes (2017). Issues with European guidelines for phenylketonuria. The Lancet. Diabetes & Endocrinology, 5(9):681-683.

Nettesheim, Susanne; Kölker, Stefan; Karall, Daniela; Häberle, Johannes; Posset, Roland; Hoffmann, Georg F; Heinrich, Beate; Gleich, Florian; Garbade, Sven F; Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS), ? (2017). Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland. Orphanet Journal of Rare Diseases, 12(1):111.

Anikster, Yair; Haack, Tobias B; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L; Paulo, Joao A; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; Ziv-Strasser, Limor; Malicdan, May Christine V; Gemperle-Britschgi, Corinne; Cremer, Kirsten; Engels, Hartmut; Meili, David; Keller, Irene; Bruggmann, Rémy; Strom, Tim M; Meitinger, Thomas; Mullikin, James C; Schwartz, Gerard; Ben-Zeev, Bruria; Gahl, William A; Harper, J Wade; Blau, Nenad; Hoffmann, Georg F; Prokisch, Holger; Opladen, Thomas; Schiff, Manuel (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American Journal of Human Genetics, 100(2):257-266.

Wassenberg, Tessa; Molero-Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg F; Assmann, Birgit; Blau, Nenad; Garcia-Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni S; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip L; Lee, Wang Tso; Kurian, Manju A; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, Michèl; Opladen, Thomas (2017). Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases, 12(1):12.

Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R; Harting, Inga; Hoffmann, Georg F; Karall, Daniela; Koeller, David M; Krawinkel, Michael B; Okun, Jürgen G; Opladen, Thomas; Posset, Roland; Sahm, Katja; Zschocke, Johannes; Kölker, Stefan (2017). Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. Journal of Inherited Metabolic Disease, 40(1):75-101.

Monostori, Péter; Klinke, Glynis; Richter, Sylvia; Baráth, Ákos; Fingerhut, Ralph; Baumgartner, Matthias R; Kölker, Stefan; Hoffmann, Georg F; Gramer, Gwendolyn; Okun, Jürgen G (2017). Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. PLoS ONE, 12(9):e0184897.

Yudkoff, M; Summar, M; Häberle, J; Sarafoglu, K; Hoffmann, Georg F; Roth, KS (2017). Urea cycle disorders. In: Hofmann, G F; Roth, K S; Sarafoglu, K. Pediatric endocrinology and inborn errors of metabolism. New York: McGrawHill, 191-208.

Pan, Yi; Shen, Nan; Jung-Klawitter, Sabine; Betzen, Christian; Hoffmann, Georg F; Hoheisel, Jörg D; Blau, Nenad (2016). CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model. Scientific Reports, 6:35794.

Unsinn, Caroline; Das, Anibh; Valayannopoulos, Vassili; Thimm, Eva; Beblo, Skadi; Burlina, Alberto; Konstantopoulou, Vassiliki; Mayorandan, Sebene; de Lonlay, Pascale; Rennecke, Jörg; Derbinski, Jens; Hoffmann, Georg F; Häberle, Johannes (2016). Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. Orphanet Journal of Rare Diseases, 11(1):116.

Shen, Nan; Heintz, Caroline; Thiel, Christian; Okun, Jürgen G; Hoffmann, Georg F; Blau, Nenad (2016). Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. Molecular Genetics and Metabolism, 117(3):328-335.

Teufel, Ulrike; Peccerella, Teresa; Engelmann, Guido; Bruckner, Thomas; Flechtenmacher, Christa; Millonig, Gunda; Stickel, Felix; Hoffmann, Georg F; Schirmacher, Peter; Mueller, Sebastian; Bartsch, Helmut; Seitz, Helmut K (2015). Detection of carcinogenic etheno-DNA adducts in children and adolescents with non-alcoholic steatohepatitis (NASH). Hepatobiliary surgery and nutrition, 4(6):426-435.

Haack, Tobias B; Gorza, Matteo; Danhauser, Katharina; Mayr, Johannes A; Haberberger, Birgit; Wieland, Thomas; Kremer, Laura; Strecker, Valentina; Graf, Elisabeth; Memari, Yasin; Ahting, Uwe; Kopajtich, Robert; Wortmann, Saskia B; Rodenburg, Richard J; Kotzaeridou, Urania; Hoffmann, Georg F; Sperl, Wolfgang; Wittig, Ilka; Wilichowski, Ekkehard; Schottmann, Gudrun; Schuelke, Markus; Plecko, Barbara; Stephani, Ulrich; Strom, Tim M; Meitinger, Thomas; Prokisch, Holger; Freisinger, Peter (2014). Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Molecular Genetics and Metabolism, 111(3):342-352.

Nadal, David; Schroten, H; Schulte, F J (2014). Bakterielle Infektionen des zentralen Nervensystems. In: Hoffmann, Georg F; Lentze, Michael J; Spranger, Jürgen; Zepp, Fred. Pädiatrie: Grundlagen und Praxis. Heidelberg: Springer Verlag, 1734-1740.

Nadal, David (2014). Bartonella henselae: Katzenkratzkrankheit. In: Hoffmann, Georg F; Lentze, Michael J; Spranger, Jürgen; Zepp, Fred. Pädiatrie: Grundlagen und Praxis. Heidelberg: Springer Verlag, 893-895.

Nadal, David (2014). Erhöhte Infektanfälligkeit. In: Hoffmann, Georg F; Lentze, Michael J; Spranger, Jürgen; Zepp, Fred. Pädiatrie: Grundlagen und Praxis. Heidelberg: Heidelberg, 735-737.

Nadal, David (2014). Rickettsiosen. In: Hoffmann, Georg F; Lentze, Michael J; Spranger, Jürgen; Zepp, Fred. Pädiatrie: Grundlagen und Praxis. Heidelberg: Springer Verlag, 896-897.

Nadal, David (2014). Sekundäre Immundefekte. In: Hoffmann, Georg F; Lentze, Michael J; Spranger, Jürgen; Zepp, Fred. Pädiatrie: Grundlagen und Praxis. Heidelberg: Springer Verlag, 721-724.

Nadal, David (2014). Virale hämorrhagische Fieber. In: Hoffmann, Georg F; Lentze, Michael J; Spranger, Jürgen; Zepp, Fred. Pädiatrie: Grundlagen und Praxis. Heidelberg: Springer Verlag, 937-942.

Nadal, David; Kieslich, M (2014). Virusinfektionen und antikörpervermittelte Krankheiten des Gehirns und des zentralen Nervensystems. In: Hoffmann, Georg F; Lentze, Michael J; Spranger, Jürgen; Zepp, Fred. Pädiatrie: Grundlagen und Praxis. Heidelberg: Springer Verlag, 1741-1745.

Opladen, Thomas; Hoffmann, Georg F; Kühn, Andrea A; Blau, Nenad (2013). Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Molecular Genetics and Metabolism, 108(3):195-197.

Friedman, Jennifer; Roze, Emmanuel; Abdenur, Jose E; Chang, Richard; Gasperini, Serena; Saletti, Veronica; Wali, Gurusidheshwar M; Eiroa, Hernan; Neville, Brian; Felice, Alex; Parascandalo, Ray; Zafeiriou, Dimitrios I; Arrabal-Fernandez, Luisa; Dill, Patricia; Eichler, Florian S; Echenne, Bernard; Gutierrez-Solana, Luis G; Hoffmann, Georg F; Hyland, Keith; Kusmierska, Katarzyna; Tijssen, Marina A J; Lutz, Thomas; Mazzuca, Michel; Penzien, Johann; Poll-The, Bwee Tien; Sykut-Cegielska, Jolanta; Szymanska, Krystyna; Thöny, Beat; Blau, Nenad (2012). Sepiapterin reductase deficiency: A treatable mimic of cerebral palsy. Annals of Neurology, 71(4):520-530.

This list was generated on Sun Jun 24 04:10:15 2018 CEST.