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	201.	Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots. [electronic resource] by Held, Patrice K Haynes, Christopher A De Jesús, Víctor R Baker, Mei W Producer: 20150827 In: Clinica chimica acta; international journal of clinical chemistry vol. 436 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	202.	Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy. [electronic resource] by Qadri, Syeda Kashfi Ting, Teck Wah Lim, James Sc Jamuar, Saumya Shekhar Producer: 20170221 In: Annals of the Academy of Medicine, Singapore vol. 45 Availability: No items available. Save to lists Add to cart (remove)
	203.	Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. [electronic resource] by Jiang, Yi Almannai, Mohammed Sutton, V Reid Sun, Qin Elsea, Sarah H Producer: 20180801 In: Molecular genetics and metabolism vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	204.	Progress and challenges in development of new therapies for urea cycle disorders. [electronic resource] by Soria, Leandro R Ah Mew, Nicholas Brunetti-Pierri, Nicola Producer: 20200305 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	205.	Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders. [electronic resource] by Amstutz, Ursula Andrey-Zürcher, Gisela Suciu, Dominic Jaggi, Rolf Häberle, Johannes Largiadèr, Carlo R Producer: 20110120 In: Clinical chemistry vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	206.	Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV). [electronic resource] by Schänzer, A Faas, D Rust, S Podskarbi, T van Kuilenburg, A B P Scarpa, M Kunze, A Marquardt, T Hahn, A Producer: 20171006 In: Klinische Padiatrie vol. 228 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	207.	Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. [electronic resource] by Posset, Roland Garcia-Cazorla, Angeles Valayannopoulos, Vassili Teles, Elisa Leão Dionisi-Vici, Carlo Brassier, Anaïs Burlina, Alberto B Burgard, Peter Cortès-Saladelafont, Elisenda Dobbelaere, Dries Couce, Maria L Sykut-Cegielska, Jolanta Häberle, Johannes Lund, Allan M Chakrapani, Anupam Schiff, Manuel Walter, John H Zeman, Jiri Vara, Roshni Kölker, Stefan Producer: 20171206 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)
	208.	Integrating cellular metabolism into a multiscale whole-body model. [electronic resource] by Krauss, Markus Schaller, Stephan Borchers, Steffen Findeisen, Rolf Lippert, Jörg Kuepfer, Lars Producer: 20130520 In: PLoS computational biology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	209.	Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. [electronic resource] by Mauhin, Wladimir Habarou, Florence Gobin, Stéphanie Servais, Aude Brassier, Anaïs Grisel, Coraline Roda, Célina Pinto, Graziella Moshous, Despina Ghalim, Fahd Krug, Pauline Deltour, Nelly Pontoizeau, Clément Dubois, Sandrine Assoun, Murielle Galmiche, Louise Bonnefont, Jean-Paul Ottolenghi, Chris de Blic, Jacques Arnoux, Jean-Baptiste de Lonlay, Pascale Producer: 20171205 In: Orphanet journal of rare diseases vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	210.	Neuropsychological attributes of urea cycle disorders: A systematic review of the literature. [electronic resource] by Waisbren, Susan E Stefanatos, Arianna K Kok, Teresa M Y Ozturk-Hismi, Burcu 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)
	211.	Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. [electronic resource] by Diaz, George A Schulze, Andreas Longo, Nicola Rhead, William Feigenbaum, Annette Wong, Derek Merritt, J Lawrence Berquist, William Gallagher, Renata C Bartholomew, Dennis McCandless, Shawn E Smith, Wendy E Harding, Cary O Zori, Roberto Lichter-Konecki, Uta Vockley, Jerry Canavan, Colleen Vescio, Thomas Holt, Robert J Berry, Susan A Producer: 20200417 In: Molecular genetics and metabolism vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	212.	Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders. [electronic resource] by Pontoizeau, Clément Roda, Célina Arnoux, Jean-Baptiste Vignolo-Diard, Patricia Brassier, Anais Habarou, Florence Barbier, Valérie Grisel, Coraline Abi-Warde, Marie-Thérèse Boddaert, Nathalie Kuster, Alice Servais, Aude Kaminska, Anna Hennequin, Carole Dupic, Laurent Lesage, Fabrice Touati, Guy Valayannopoulos, Vassili Chadefaux-Vekemans, Bernadette Oualha, Mehdi Eisermann, Monika Ottolenghi, Chris de Lonlay, Pascale Producer: 20210406 In: Molecular genetics and metabolism vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	213.	Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision-making in rare disease. [electronic resource] by Gerstein, Maya T Markus, Anne R Gianattasio, Kan Z Le Mons, Cynthia Bartos, Janice Stevens, David M Mew, Nicholas Ah Producer: 20210823 In: Journal of inherited metabolic disease vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	214.	Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. [electronic resource] by Nagamani, Sandesh C S Diaz, George A Rhead, William Berry, Susan A Le Mons, Cynthia Lichter-Konecki, Uta Bartley, James Feigenbaum, Annette Schulze, Andreas Longo, Nicola Berquist, William Gallagher, Renata Bartholomew, Dennis Harding, Cary O Korson, Mark S McCandless, Shawn E Smith, Wendy Vockley, Jerry Kronn, David Zori, Robert Cederbaum, Stephen Merritt, J Lawrence Wong, Derek Coakley, Dion F Scharschmidt, Bruce F Dickinson, Klara Marino, Miguel Lee, Brendan H Mokhtarani, Masoud Producer: 20160706 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)
	215.	Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders. [electronic resource] by Kido, Jun Matsumoto, Shirou Momosaki, Ken Sakamoto, Rieko Mitsubuchi, Hiroshi Endo, Fumio Nakamura, Kimitoshi Producer: 20180418 In: Pediatric transplantation vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	216.	Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. [electronic resource] by Molema, Femke Gleich, Florian Burgard, Peter van der Ploeg, Ans T Summar, Marshall L Chapman, Kimberly A Lund, Allan M Rizopoulos, Dimitris Kölker, Stefan Williams, Monique Producer: 20191107 In: Molecular genetics and metabolism vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	217.	Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. [electronic resource] by Yang, L Yang, J Zhang, T Weng, C Hong, F Tong, F Yang, R Yin, X Yu, P Huang, X Qi, M Producer: 20160725 In: Clinical genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	218.	Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years. [electronic resource] by Berry, Susan A Longo, Nicola Diaz, George A McCandless, Shawn E Smith, Wendy E Harding, Cary O Zori, Roberto Ficicioglu, Can Lichter-Konecki, Uta Robinson, Beth Vockley, Jerry Producer: 20180801 In: Molecular genetics and metabolism vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	219.	Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency? [electronic resource] by Sh Ali, Ala A Al-Mashta, Sarmad A Producer: 20130626 In: Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	220.	Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. [electronic resource] by Wortmann, Saskia B Chen, Margaret A Colombo, Roberto Pontoglio, Alessandro Alhaddad, Bader Botto, Lorenzo D Yuzyuk, Tatiana Coughlin, Curtis R Descartes, Maria Grűnewald, Stephanie Maranda, Bruno Mills, Philippa B Pitt, James Potente, Catherine Rodenburg, Richard Kluijtmans, Leo A J Sampath, Srirangan Pai, Emil F Wevers, Ron A Tiller, George E Producer: 20170824 In: Journal of inherited metabolic disease vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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