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	101.	Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. [electronic resource] by Posset, Roland Gropman, Andrea L Nagamani, Sandesh C S Burrage, Lindsay C Bedoyan, Jirair K Wong, Derek Berry, Gerard T Baumgartner, Matthias R Yudkoff, Marc Zielonka, Matthias Hoffmann, Georg F Burgard, Peter Schulze, Andreas McCandless, Shawn E Garcia-Cazorla, Angeles Seminara, Jennifer Garbade, Sven F Kölker, Stefan Producer: 20200330 In: Annals of neurology vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias. [electronic resource] by 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 Publication details: Journal of inherited metabolic disease Jul 2018 In: Journal of inherited metabolic disease vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Impact of age at onset and newborn screening on outcome in organic acidurias. [electronic resource] by 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 Producer: 20171207 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. [electronic resource] by Posset, Roland Garbade, Sven F Boy, Nikolas Burlina, Alberto B Dionisi-Vici, Carlo Dobbelaere, Dries Garcia-Cazorla, Angeles de Lonlay, Pascale Teles, Elisa Leão Vara, Roshni Mew, Nicholas Ah Batshaw, Mark L Baumgartner, Matthias R McCandless, Shawn E Seminara, Jennifer Summar, Marshall Hoffmann, Georg F Kölker, Stefan Burgard, Peter Producer: 20200401 In: Journal of inherited metabolic disease vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. [electronic resource] by 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 Producer: 20131105 In: American journal of human genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. [electronic resource] by 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 Producer: 20121210 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Newborn screening: A disease-changing intervention for glutaric aciduria type 1. [electronic resource] by Boy, Nikolas Mengler, Katharina Thimm, Eva Schiergens, Katharina A Marquardt, Thorsten Weinhold, Natalie Marquardt, Iris Das, Anibh M Freisinger, Peter Grünert, Sarah C Vossbeck, Judith Steinfeld, Robert Baumgartner, Matthias R Beblo, Skadi Dieckmann, Andrea Näke, Andrea Lindner, Martin Heringer, Jana Hoffmann, Georg F Mühlhausen, Chris Maier, Esther M Ensenauer, Regina Garbade, Sven F Kölker, Stefan Producer: 20190813 In: Annals of neurology vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. [electronic resource] by Baumgartner, Matthias R Hörster, Friederike Dionisi-Vici, Carlo Haliloglu, Goknur Karall, Daniela Chapman, Kimberly A Huemer, Martina Hochuli, Michel Assoun, Murielle Ballhausen, Diana Burlina, Alberto Fowler, Brian Grünert, Sarah C Grünewald, Stephanie Honzik, Tomas Merinero, Begoña Pérez-Cerdá, Celia Scholl-Bürgi, Sabine Skovby, Flemming Wijburg, Frits MacDonald, Anita Martinelli, Diego Sass, Jörn Oliver Valayannopoulos, Vassili Chakrapani, Anupam Producer: 20150330 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. [electronic resource] by 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 Producer: 20160930 In: Orphanet journal of rare diseases vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. [electronic resource] by 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, Gioacchino Aldamiz-Echevarría, Luiz Besley, Guy Walter, John Martinez-Hernandez, Eugenia Hernandez, Jose M Pierri, Ciro L Palmieri, Ferdinando Santorelli, Filippo M Producer: 20090730 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. [electronic resource] by Seminara, Jennifer Tuchman, Mendel Krivitzky, Lauren Krischer, Jeffrey Lee, Hye-Seung Lemons, Cynthia Baumgartner, Matthias Cederbaum, Stephen Diaz, George A Feigenbaum, Annette Gallagher, Renata C Harding, Cary O Kerr, Douglas S Lanpher, Brendan Lee, Brendan Lichter-Konecki, Uta McCandless, Shawn E Merritt, J Lawrence Oster-Granite, Mary Lou Seashore, Margretta R Stricker, Tamar Summar, Marshall Waisbren, Susan Yudkoff, Marc Batshaw, Mark L Producer: 20100721 In: Molecular genetics and metabolism vol. 100 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	Clinical presentation and outcome in a series of 88 patients with the cblC defect. [electronic resource] by Fischer, Sabine Huemer, Martina Baumgartner, Matthias Deodato, Federica Ballhausen, Diana Boneh, Avihu Burlina, Alberto B Cerone, Roberto Garcia, Paula Gökçay, Gülden Grünewald, Stephanie Häberle, Johannes Jaeken, Jaak Ketteridge, David Lindner, Martin Mandel, Hanna Martinelli, Diego Martins, Esmeralda G Schwab, Karl O Gruenert, Sarah C Schwahn, Bernd C Sztriha, László Tomaske, Maren Trefz, Friedrich Vilarinho, Laura Rosenblatt, David S Fowler, Brian Dionisi-Vici, Carlo Producer: 20150515 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. [electronic resource] by 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 Producer: 20140609 In: Brain : a journal of neurology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. [electronic resource] by 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 Producer: 20140909 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria. [electronic resource] by Lucienne, Marie Aguilar-Pimentel, Juan Antonio Amarie, Oana V Becker, Lore Calzada-Wack, Julia da Silva-Buttkus, Patricia Garrett, Lillian Hölter, Sabine M Mayer-Kuckuk, Philipp Rathkolb, Birgit Rozman, Jan Spielmann, Nadine Treise, Irina Busch, Dirk H Klopstock, Thomas Schmidt-Weber, Carsten Wolf, Eckhard Wurst, Wolfgang Forny, Merima Mathis, Déborah Fingerhut, Ralph Froese, D Sean Gailus-Durner, Valerie Fuchs, Helmut de Angelis, Martin Hrabě Baumgartner, Matthias R Producer: 20200803 In: Biochimica et biophysica acta. Molecular basis of disease vol. 1866 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. [electronic resource] by Guéant, Jean-Louis Chéry, Céline Oussalah, Abderrahim Nadaf, Javad Coelho, David Josse, Thomas Flayac, Justine Robert, Aurélie Koscinski, Isabelle Gastin, Isabelle Filhine-Tresarrieu, Pierre Pupavac, Mihaela Brebner, Alison Watkins, David Pastinen, Tomi Montpetit, Alexandre Hariri, Fadi Tregouët, David Raby, Benjamin A Chung, Wendy K Morange, Pierre-Emmanuel Froese, D Sean Baumgartner, Matthias R Benoist, Jean-François Ficicioglu, Can Marchand, Virginie Motorin, Yuri Bonnemains, Chrystèle Feillet, François Majewski, Jacek Rosenblatt, David S Producer: 20180305 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. [electronic resource] by Guéant, Jean-Louis Chéry, Céline Oussalah, Abderrahim Nadaf, Javad Coelho, David Josse, Thomas Flayac, Justine Robert, Aurélie Koscinski, Isabelle Gastin, Isabelle Filhine-Tresarrieu, Pierre Pupavac, Mihaela Brebner, Alison Watkins, David Pastinen, Tomi Montpetit, Alexandre Hariri, Fadi Tregouët, David Raby, Benjamin A Chung, Wendy K Morange, Pierre-Emmanuel Froese, D Sean Baumgartner, Matthias R Benoist, Jean-François Ficicioglu, Can Marchand, Virginie Motorin, Yuri Bonnemains, Chrystèle Feillet, François Majewski, Jacek Rosenblatt, David S Publication details: Nature communications 02 2018 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. [electronic resource] by 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 Producer: 20130723 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. [electronic resource] by Kölker, Stefan Cazorla, Angeles Garcia Valayannopoulos, Vassili Lund, Allan M Burlina, Alberto B Sykut-Cegielska, Jolanta Wijburg, Frits A Teles, Elisa Leão Zeman, Jiri Dionisi-Vici, Carlo Barić, Ivo Karall, Daniela Augoustides-Savvopoulou, Persephone Aksglaede, Lise Arnoux, Jean-Baptiste Avram, Paula Baumgartner, Matthias R Blasco-Alonso, Javier Chabrol, Brigitte Chakrapani, Anupam Chapman, Kimberly I Saladelafont, Elisenda Cortès Couce, Maria L de Meirleir, Linda Dobbelaere, Dries Dvorakova, Veronika Furlan, Francesca Gleich, Florian Gradowska, Wanda Grünewald, Stephanie Jalan, Anil Häberle, Johannes Haege, Gisela Lachmann, Robin Laemmle, Alexander Langereis, Eveline de Lonlay, Pascale Martinelli, Diego Matsumoto, Shirou Mühlhausen, Chris de Baulny, Hélène Ogier Ortez, Carlos Peña-Quintana, Luis Ramadža, Danijela Petković Rodrigues, Esmeralda Scholl-Bürgi, Sabine Sokal, Etienne Staufner, Christian Summar, Marshall L Thompson, Nicholas Vara, Roshni Pinera, Inmaculada Vives Walter, John H Williams, Monique Burgard, Peter Producer: 20160308 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. [electronic resource] by Kölker, Stefan Garcia-Cazorla, Angeles Cazorla, Angeles Garcia Valayannopoulos, Vassili Lund, Allan M Burlina, Alberto B Sykut-Cegielska, Jolanta Wijburg, Frits A Teles, Elisa Leão Zeman, Jiri Dionisi-Vici, Carlo Barić, Ivo Karall, Daniela Augoustides-Savvopoulou, Persephone Aksglaede, Lise Arnoux, Jean-Baptiste Avram, Paula Baumgartner, Matthias R Blasco-Alonso, Javier Chabrol, Brigitte Chakrapani, Anupam Chapman, Kimberly I Saladelafont, Elisenda Cortès Couce, Maria L de Meirleir, Linda Dobbelaere, Dries Dvorakova, Veronika Furlan, Francesca Gleich, Florian Gradowska, Wanda Grünewald, Stephanie Jalan, Anil Häberle, Johannes Haege, Gisela Lachmann, Robin Laemmle, Alexander Langereis, Eveline de Lonlay, Pascale Martinelli, Diego Matsumoto, Shirou Mühlhausen, Chris de Baulny, Hélène Ogier Ortez, Carlos Peña-Quintana, Luis Ramadža, Danijela Petković Rodrigues, Esmeralda Scholl-Bürgi, Sabine Sokal, Etienne Staufner, Christian Summar, Marshall L Thompson, Nicholas Vara, Roshni Pinera, Inmaculada Vives Walter, John H Williams, Monique Burgard, Peter Producer: 20160920 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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