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	221.	Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing. [electronic resource] by Choi, Rihwa Park, Hyung Doo Yang, Mina Ki, Chang Seok Lee, Soo Youn Kim, Jong Won Song, Junghan Chang, Yun Sil Park, Won Soon Producer: 20170207 In: Annals of laboratory medicine vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	222.	Formulation and Clinical Evaluation of Sodium Benzoate Oral Solution for the Treatment of Urea Cycle Disorders in Pediatric Patients. [electronic resource] by Maines, E Urru, S A M Burri, E Piccoli, G Pedrolli, A Pasqualini, A Burlina, A L Temporin, G Producer: 20200817 In: AAPS PharmSciTech vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	223.	Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. [electronic resource] by Fabre, Alexandre Baumstarck, Karine Cano, Aline Loundou, Anderson Berbis, Julie Chabrol, Brigitte Auquier, Pascal Producer: 20140724 In: Health and quality of life outcomes vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	224.	High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency. [electronic resource] by Auray-Blais, Christiane Maranda, Bruno Lavoie, Pamela 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)
	225.	Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. [electronic resource] by Kho, Jordan Tian, Xiaoyu Wong, Wing-Tak Bertin, Terry Jiang, Ming-Ming Chen, Shan Jin, Zixue Shchelochkov, Oleg A Burrage, Lindsay C Reddy, Anilkumar K Jiang, Hong Abo-Zahrah, Reem Ma, Shuangtao Zhang, Ping Bissig, Karl-Dimiter Kim, Jean J Devaraj, Sridevi Rodney, George G Erez, Ayelet Bryan, Nathan S Nagamani, Sandesh C S Lee, Brendan H Producer: 20190513 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	226.	Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation. [electronic resource] by Bates, Timothy R Lewis, Barry D Burnett, John R So, Kenji Mitchell, Andrew Delriviere, Luc Jeffrey, Gary P Producer: 20120328 In: Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	227.	Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients. [electronic resource] by Smets, Françoise Dobbelaere, Dries McKiernan, Patrick Dionisi-Vici, Carlo Broué, Pierre Jacquemin, Emmanuel Lopes, Ana Isabel Gonçalves, Isabel Mandel, Hanna Pawlowska, Joanna Kamińska, Diana Shteyer, Eyal Torre, Giuliano Shapiro, Riki Eyskens, François Clapuyt, Philippe Gissen, Paul Pariente, Danièle Grunewald, Stephanie Yudkoff, Marc Binda, Maria Mercedes Najimi, Mustapha Belmonte, Nathalie de Vos, Beatrice Thonnard, Joelle Sokal, Etienne Producer: 20200608 In: Transplantation vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	228.	Retinal risks of high-dose ornithine supplements: a review. [electronic resource] by Hayasaka, Seiji Kodama, Tatsuo Ohira, Akihiro Producer: 20111108 In: The British journal of nutrition vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	229.	[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]. [electronic resource] by Gong, Li-fei Ye, Jun Han, Lian-shu Qiu, Wen-juan Zhang, Hui-wen Gao, Xiao-lan Jin, Jing Xu, Hao Gu, Xue-fan Producer: 20140102 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	230.	[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]. [electronic resource] by Ye, Jun Gong, Lifei Han, Lianshu Qiu, Wenjuan Zhang, Huiwen Gao, Xiaolan Jin, Jing Xu, Hao Gu, Xuefan Producer: 20150113 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 52 Availability: No items available. Save to lists Add to cart (remove)
	231.	Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. [electronic resource] by Hu, Liyan Pandey, Amit V Balmer, Cécile Eggimann, Sandra Rüfenacht, Véronique Nuoffer, Jean-Marc Häberle, Johannes Producer: 20160706 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)
	232.	Neurologic outcome of urea cycle disorder liver transplant recipients may be predicted by pretransplant neurological imaging. [electronic resource] by Bolton, Scott M Campbell, Kathleen M Kukreja, Marcia Kohli, Rohit Producer: 20160428 In: Pediatric transplantation vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	233.	Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant. [electronic resource] by Marobbio, Carlo M T Punzi, Giuseppe Pierri, Ciro L Palmieri, Luigi Calvello, Rosa Panaro, Maria A Palmieri, Ferdinando Producer: 20160127 In: Molecular genetics and metabolism vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	234.	Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience. [electronic resource] by Pichler, Karin Michel, Miriam Zlamy, Manuela Scholl-Buergi, Sabine Ralser, Elisabeth Jörg-Streller, Monika Karall, Daniela Producer: 20171010 In: Journal of perinatal medicine vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	235.	Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders. [electronic resource] by Andrade, Fernando Vitoria, Isidro Martín Hernández, Elena Pintos-Morell, Guillem Correcher, Patricia Puig-Piña, Rocío Quijada-Fraile, Pilar Peña-Quintana, Luis Marquez, Ana Mª Villate, Olatz García Silva, Mª Teresa de Las Heras, Javier Ceberio, Leticia Rodrigues, Esmeralda Almeida Campos, Teresa Yahyaoui, Raquel Blasco, Javier Vives-Piñera, Inmaculada Gil, David Del Toro, Mireia Ruiz-Pons, Mónica Cañedo, Elvira Barba Romero, Miguel Angel García-Jiménez, Mª Concepción Aldámiz-Echevarría, Luis Producer: 20200310 In: Journal of pharmaceutical and biomedical analysis vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	236.	In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis. [electronic resource] by Opladen, Thomas Lindner, Martin Das, Anibh M Marquardt, Thorsten Khan, Aneal Emre, Sukru H Burton, Barbara K Barshop, Bruce A Böhm, Thea Meyburg, Jochen Zangerl, Kathrin Mayorandan, Sebene Burgard, Peter Dürr, Ulrich H N Rosenkranz, Bernd Rennecke, Jörg Derbinski, Jens Yudkoff, Marc Hoffmann, Georg F Producer: 20161024 In: Molecular genetics and metabolism vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	237.	[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. [electronic resource] by Song, Yuan-Zong Ushikai, Miharu Sheng, Jian-sheng Iijima, Mikio Kobayashi, Keiko Producer: 20101029 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 45 Availability: No items available. Save to lists Add to cart (remove)
	238.	Ammonia uptake by transmembrane pH gradient poly(isoprene)-block-poly(ethylene glycol) polymersomes. [electronic resource] by Schmidt, Aaron C Hebels, Erik R Weitzel, Charlotte Stoessel, Barbara Bao, Yinyin Altmann, Karl-Heinz Leroux, Jean-Christophe Producer: 20200915 In: Soft matter vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	239.	Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency. [electronic resource] by Schwob, Elisabeth Hagos, Yohannes Burckhardt, Gerhard Burckhardt, Birgitta C Producer: 20150211 In: American journal of physiology. Renal physiology vol. 307 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	240.	Carbonic anhydrase 2 deficiency leads to increased pyelonephritis susceptibility. [electronic resource] by Hains, David S Chen, Xi Saxena, Vijay Barr-Beare, Evan Flemming, Weisi Easterling, Robert Becknell, Brian Schwartz, George J Schwaderer, Andrew L Producer: 20141209 In: American journal of physiology. Renal physiology vol. 307 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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