Your search returned 279 results.

Results
	261.	Fatal hyperammonemia after renal transplant due to late-onset urea cycle deficiency: a case report. [electronic resource] by Bezinover, D Douthitt, L McQuillan, P M Khan, A Dalal, P Stene, J Uemura, T Kadry, Z Janicki, P K Producer: 20101029 In: Transplantation proceedings vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	262.	Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders. [electronic resource] by Wang, Jing Zhan, Hongli Li, Fang-Yuan Pursley, Amber N Schmitt, Eric S Wong, Lee-Jun Producer: 20120918 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	263.	Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. [electronic resource] by Molema, Femke Gleich, Florian Burgard, Peter van der Ploeg, Ans T Summar, Marshall L Chapman, Kimberly A Barić, Ivo Lund, Allan M Kölker, Stefan Williams, Monique Producer: 20200824 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)
	264.	Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome. [electronic resource] by Zanatta, Angela Viegas, Carolina Maso Tonin, Anelise Miotti Busanello, Estela Natacha Brandt Grings, Mateus Moura, Alana Pimentel Leipnitz, Guilhian Wajner, Moacir Producer: 20130923 In: Life sciences vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	265.	Living donor liver transplantation for pediatric patients with metabolic disorders: the Japanese multicenter registry. [electronic resource] by Kasahara, Mureo Sakamoto, Seisuke Horikawa, Reiko Koji, Umeshita Mizuta, Koichi Shinkai, Masato Takahito, Yagi Taguchi, Tomoaki Inomata, Yukihiro Uemoto, Shinji Tatsuo, Kuroda Kato, Shunichi Producer: 20140926 In: Pediatric transplantation vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	266.	Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1. [electronic resource] by Wang, Jing-Fang Chou, Kuo-Chen Producer: 20120604 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	267.	Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. [electronic resource] by Huemer, Martina Carvalho, Daniel R Brum, Jaime M Ünal, Özlem Coskun, Turgay Weisfeld-Adams, James D Schrager, Nina L Scholl-Bürgi, Sabine Schlune, Andrea Donner, Markus G Hersberger, Martin Gemperle, Claudio Riesner, Brunhilde Ulmer, Hanno Häberle, Johannes Karall, Daniela 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)
	268.	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)
	269.	N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. [electronic resource] by Heibel, Sandra K Ah Mew, Nicholas Caldovic, Ljubica Daikhin, Yevgeny Yudkoff, Marc Tuchman, Mendel Producer: 20120117 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	270.	Dietary management of urea cycle disorders: European practice. [electronic resource] by Adam, S Almeida, M F Assoun, M Baruteau, J Bernabei, S M Bigot, S Champion, H Daly, A Dassy, M Dawson, S Dixon, M Dokoupil, K Dubois, S Dunlop, C Evans, S Eyskens, F Faria, A Favre, E Ferguson, C Goncalves, C Gribben, J Heddrich-Ellerbrok, M Jankowski, C Janssen-Regelink, R Jouault, C Laguerre, C Le Verge, S Link, R Lowry, S Luyten, K Macdonald, A Maritz, C McDowell, S Meyer, U Micciche, A Robert, M Robertson, L V Rocha, J C Rohde, C Saruggia, I Sjoqvist, E Stafford, J Terry, A Thom, R Vande Kerckhove, K van Rijn, M van Teeffelen-Heithoff, A Wegberg, A van van Wyk, K Vasconcelos, C Vestergaard, H Webster, D White, F J Wildgoose, J Zweers, H Producer: 20140616 In: Molecular genetics and metabolism vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	271.	Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy. [electronic resource] by Raina, Rupesh Bedoyan, Jirair K Lichter-Konecki, Uta Jouvet, Philippe Picca, Stefano Mew, Nicholas Ah Machado, Marcel C Chakraborty, Ronith Vemuganti, Meghana Grewal, Manpreet K Bunchman, Timothy Sethi, Sidharth Kumar Krishnappa, Vinod McCulloch, Mignon Alhasan, Khalid Bagga, Arvind Basu, Rajit K Schaefer, Franz Filler, Guido Warady, Bradley A Producer: 20201106 In: Nature reviews. Nephrology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	272.	Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles". [electronic resource] by Minkler, Paul E Stoll, Maria S K Ingalls, Stephen T Kerner, Janos Hoppel, Charles L Producer: 20160926 In: Molecular genetics and metabolism vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	273.	The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. [electronic resource] by Kölker, Stefan Valayannopoulos, Vassili Burlina, Alberto B Sykut-Cegielska, Jolanta Wijburg, Frits A Teles, Elisa Leão Zeman, Jiri Dionisi-Vici, Carlo Barić, Ivo Karall, Daniela Arnoux, Jean-Baptiste Avram, Paula Baumgartner, Matthias R Blasco-Alonso, Javier Boy, S P Nikolas Rasmussen, Marlene Bøgehus Burgard, Peter Chabrol, Brigitte Chakrapani, Anupam Chapman, Kimberly Cortès I Saladelafont, Elisenda Couce, Maria L de Meirleir, Linda Dobbelaere, Dries Furlan, Francesca Gleich, Florian González, Maria Julieta Gradowska, Wanda Grünewald, Stephanie Honzik, Tomas Hörster, Friederike Ioannou, Hariklea Jalan, Anil Häberle, Johannes Haege, Gisela Langereis, Eveline de Lonlay, Pascale Martinelli, Diego Matsumoto, Shirou Mühlhausen, Chris Murphy, Elaine de Baulny, Hélène Ogier Ortez, Carlos Pedrón, Consuelo C Pintos-Morell, Guillem Pena-Quintana, Luis Ramadža, Danijela Petković Rodrigues, Esmeralda Scholl-Bürgi, Sabine Sokal, Etienne Summar, Marshall L Thompson, Nicholas Vara, Roshni Pinera, Inmaculada Vives Walter, John H Williams, Monique Lund, Allan M Garcia-Cazorla, Angeles Garcia Cazorla, Angeles 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)
	274.	Perioperative exacerbation of valproic acid-associated hyperammonemia: a clinical and genetic analysis. [electronic resource] by Bezinover, Dmitri Postula, Marek Donahue, Kathleen Bentzen, Brian McInerney, James Janicki, Piotr K Producer: 20120716 In: Anesthesia and analgesia vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	275.	Functional characterization of hepatocytes for cell transplantation: customized cell preparation for each receptor. [electronic resource] by Bonora-Centelles, A Donato, M T Lahoz, A Pareja, E Mir, J Castell, J V Gómez-Lechón, M J Producer: 20100629 In: Cell transplantation vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	276.	Next generation sequencing as a follow-up test in an expanded newborn screening programme. [electronic resource] by Smon, Andraz Repic Lampret, Barbka Groselj, Urh Zerjav Tansek, Mojca Kovac, Jernej Perko, Dasa Bertok, Sara Battelino, Tadej Trebusak Podkrajsek, Katarina Producer: 20180404 In: Clinical biochemistry vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	277.	Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan. [electronic resource] by Sokoro, AbdulRazaq A H Lepage, Joyce Antonishyn, Nick McDonald, Ryan Rockman-Greenberg, Cheryl Irvine, James Lehotay, Denis C Producer: 20140408 In: Journal of inherited metabolic disease vol. 33 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	278.	[Mass Screening for Inborn Errors of Metabolism]. [electronic resource] by Ito, Tetsuya Producer: 20160211 In: Rinsho byori. The Japanese journal of clinical pathology vol. 63 Availability: No items available. Save to lists Add to cart (remove)
	279.	Creatine biosynthesis and transport in health and disease. [electronic resource] by Joncquel-Chevalier Curt, Marie Voicu, Pia-Manuela Fontaine, Monique Dessein, Anne-Frédérique Porchet, Nicole Mention-Mulliez, Karine Dobbelaere, Dries Soto-Ares, Gustavo Cheillan, David Vamecq, Joseph Producer: 20161213 In: Biochimie vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

First
Previous
5
6
7
8
9
10
11
12
13
14