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	121.	Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. [electronic resource] by Sancho-Vaello, Enea Marco-Marín, Clara Gougeard, Nadine Fernández-Murga, Leonor Rüfenacht, Véronique Mustedanagic, Merima Rubio, Vicente Häberle, Johannes Producer: 20171214 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. [electronic resource] by Lee, Brendan Diaz, George A Rhead, William Lichter-Konecki, Uta Feigenbaum, Annette Berry, Susan A Le Mons, Cindy Bartley, James A Longo, Nicola Nagamani, Sandesh C Berquist, William Gallagher, Renata Bartholomew, Dennis Harding, Cary O Korson, Mark S McCandless, Shawn E Smith, Wendy Cederbaum, Stephen Wong, Derek Merritt, J Lawrence Schulze, Andreas Vockley, Jerry Vockley, Gerard Kronn, David Zori, Roberto Summar, Marshall Milikien, Douglas A Marino, Miguel Coakley, Dion F Mokhtarani, Masoud Scharschmidt, Bruce F Producer: 20160527 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	Unexpectedly Weak Anti-B in 2 Group O Pediatric Patients on Parenteral Nutrition and Disease Specific Supplemental Enteral Feeds. [electronic resource] by Kaplan, Alesia Gabert, Kimberly A Yazer, Mark H Producer: 20201211 In: Laboratory medicine vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency. [electronic resource] by Burrage, Lindsay C Madan, Simran Li, Xiaohui Ali, Saima Mohammad, Mahmoud Stroup, Bridget M Jiang, Ming-Ming Cela, Racel Bertin, Terry Jin, Zixue Dai, Jian Guffey, Danielle Finegold, Milton Nagamani, Sandesh Minard, Charles G Marini, Juan Masand, Prakash Schady, Deborah Shneider, Benjamin L Leung, Daniel H Bali, Deeksha Lee, Brendan Producer: 20210621 In: JCI insight vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	125.	Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. [electronic resource] by Forsyth, RaeLynn Vockley, Catherine Walsh Edick, Mathew J Cameron, Cynthia A Hiner, Sally J Berry, Susan A Vockley, Jerry Arnold, Georgianne L Producer: 20170103 In: Molecular genetics and metabolism vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress. [electronic resource] by Zandberg, L van Dyk, H C van der Westhuizen, F H van Dijk, A A Producer: 20171120 In: The international journal of biochemistry & cell biology vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	Pharmacology and safety of glycerol phenylbutyrate in healthy adults and adults with cirrhosis. [electronic resource] by McGuire, Brendan M Zupanets, Igor A Lowe, Mark E Xiao, Xunjun Syplyviy, Vasyliy A Monteleone, Jon Gargosky, Sharron Dickinson, Klara Martinez, Antonia Mokhtarani, Masoud Scharschmidt, Bruce F Producer: 20100617 In: Hepatology (Baltimore, Md.) vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	128.	Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. [electronic resource] by Berry, Susan A Lichter-Konecki, Uta Diaz, George A McCandless, Shawn E Rhead, William Smith, Wendy Lemons, Cynthia Nagamani, Sandesh C S Coakley, Dion F Mokhtarani, Masoud Scharschmidt, Bruce F Lee, Brendan Producer: 20141208 In: Molecular genetics and metabolism vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	Patterns of brain injury in inborn errors of metabolism. [electronic resource] by Gropman, Andrea L Producer: 20130530 In: Seminars in pediatric neurology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	Dietary protein in urea cycle defects: How much? Which? How? [electronic resource] by Boneh, Avihu Producer: 20150610 In: Molecular genetics and metabolism vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias. [electronic resource] by Lichter-Konecki, Uta Nadkarni, Vinay Moudgil, Asha Cook, Noah Poeschl, Johannes Meyer, Michael T Dimmock, David Baumgart, Stephen Producer: 20140317 In: Molecular genetics and metabolism vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction. [electronic resource] by Anstey, James R Haydon, Timothy P Ghanpur, Rashmi B de Jong, Gerard Producer: 20160412 In: The Medical journal of Australia vol. 203 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	A rare case of hyperammonemia complication of high-protein parenteral nutrition. [electronic resource] by Pillai, Unnikrishnan Kahlon, Roopkiranjot Sondheimer, James Cadnapaphorncai, Pravit Bhat, Zeenat Producer: 20130621 In: JPEN. Journal of parenteral and enteral nutrition vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. [electronic resource] by Mokhtarani, M Diaz, G A Rhead, W Lichter-Konecki, U Bartley, J Feigenbaum, A Longo, N Berquist, W Berry, S A Gallagher, R Bartholomew, D Harding, C O Korson, M S McCandless, S E Smith, W Vockley, J Bart, S Kronn, D Zori, R Cederbaum, S Dorrani, N Merritt, J L Sreenath-Nagamani, Sandesh Summar, M Lemons, C Dickinson, K Coakley, D F Moors, T L Lee, B Scharschmidt, B F Producer: 20130327 In: Molecular genetics and metabolism vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	Long-Term Follow-Up on a Cohort Temporary Utilization Authorization (ATU) Survey of Patients Treated with Pheburane (Sodium Phenylbutyrate) Taste-Masked Granules. [electronic resource] by Kibleur, Yves Guffon, Nathalie Producer: 20161018 In: Paediatric drugs vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	Metabolic analysis reveals evidence for branched chain amino acid catabolism crosstalk and the potential for improved treatment of organic acidurias. [electronic resource] by McCalley, Stephen Pirman, David Clasquin, Michelle Johnson, Kendall Jin, Shengfang Vockley, Jerry Producer: 20200430 In: Molecular genetics and metabolism vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	Suggested guidelines for the diagnosis and management of urea cycle disorders. [electronic resource] by Häberle, Johannes Boddaert, Nathalie Burlina, Alberto Chakrapani, Anupam Dixon, Marjorie Huemer, Martina Karall, Daniela Martinelli, Diego Crespo, Pablo Sanjurjo Santer, René Servais, Aude Valayannopoulos, Vassili Lindner, Martin Rubio, Vicente Dionisi-Vici, Carlo Producer: 20130410 In: Orphanet journal of rare diseases vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Efficacy of peritoneal dialysis in neonates presenting with hyperammonaemia due to urea cycle defects and organic acidaemia. [electronic resource] by Celik, Muhittin Akdeniz, Osman Ozgun, Nezir Producer: 20190614 In: Nephrology (Carlton, Vic.) vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. [electronic resource] by Smith, Wendy Diaz, George A Lichter-Konecki, Uta Berry, Susan A Harding, Cary O McCandless, Shawn E LeMons, Cindy Mauney, Joe Dickinson, Klara Coakley, Dion F Moors, Tristen Mokhtarani, Masoud Scharschmidt, Bruce F Lee, Brendan Producer: 20130806 In: The Journal of pediatrics vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	140.	Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) survey of patients in france treated with Pheburane(®) (Sodium Phenylbutyrate) taste-masked granules. [electronic resource] by Kibleur, Yves Dobbelaere, Dries Barth, Magalie Brassier, Anaïs Guffon, Nathalie Producer: 20141214 In: Paediatric drugs vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 279 results.