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Select item 104944991.

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre

Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

JIMD Rep. 2023 Sep; 64(5): 317–326. Published online 2023 Jul 23. doi: 10.1002/jmd2.12386

PMCID:: PMC10494499

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Select item 103627452.

Citrulline in the management of patients with urea cycle disorders

Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay

Orphanet J Rare Dis. 2023; 18: 207. Published online 2023 Jul 21. doi: 10.1186/s13023-023-02800-8

PMCID:: PMC10362745

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Select item 101361483.

Moderate-Intensity Exercise Improves Mesenteric Arterial Function in Male UC Davis Type-2 Diabetes Mellitus (UCD-T2DM) Rats: A Shift in the Relative Importance of Endothelium-Derived Relaxing Factors (EDRF)

Md Rahatullah Razan, Said Amissi, Rifat Ara Islam, James L. Graham, Kimber L. Stanhope, Peter J. Havel, Roshanak Rahimian

Biomedicines. 2023 Apr; 11(4): 1129. Published online 2023 Apr 8. doi: 10.3390/biomedicines11041129

PMCID:: PMC10136148

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Select item 100202094.

Urea cycle disorders and indications for liver transplantation

Marta García Vega, José D. Andrade, Ana Morais, Esteban Frauca, Gema Muñoz Bartolo, María D. Lledín, Ana Bergua, Loreto Hierro

Front Pediatr. 2023; 11: 1103757. Published online 2023 Mar 3. doi: 10.3389/fped.2023.1103757

PMCID:: PMC10020209

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Select item 98931935.

Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies

Mikako Enokizono, Noriko Aida, Akira Yagishita, Yasuhiro Nakata, Reiko Ideguchi, Ryo Kurokawa, Tatsuo Kono, Toshio Moritani, Harushi Mori

Jpn J Radiol. 2023; 41(7): 683–702. Published online 2023 Feb 2. doi: 10.1007/s11604-023-01396-0

PMCID:: PMC9893193

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Select item 98362466.

Growth hormone treatment does not augment the anti‐diabetic effects of liraglutide in UCD‐T2DM rats

Michael M. Swarbrick, Chad L. Cox, James L. Graham, Lotte B. Knudsen, Kimber Stanhope, Kirsten Raun, Peter J. Havel

Endocrinol Diabetes Metab. 2023 Jan; 6(1): e392. Published online 2022 Dec 8. doi: 10.1002/edm2.392

PMCID:: PMC9836246

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Select item 97490207.

Crystal Chemistry and Physics of UCd₁₁

Nazar Zaremba, Kristian Witthaut, Yurii Prots, Mitja Krnel, Ulrich Burkhardt, Zachary Fisk, Yuri Grin, Eteri Svanidze

Inorg Chem. 2022 Dec 12; 61(49): 19695–19701. Published online 2022 Nov 29. doi: 10.1021/acs.inorgchem.2c01986

PMCID:: PMC9749020

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Select item 96021488.

Review of Applications of Near-Infrared Spectroscopy in Two Rare Disorders with Executive and Neurological Dysfunction: UCD and PKU

Kosar Khaksari, Wei-Liang Chen, Andrea L. Gropman

Genes (Basel) 2022 Oct; 13(10): 1690. Published online 2022 Sep 21. doi: 10.3390/genes13101690

PMCID:: PMC9602148

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Select item 95130779.

Modelling urea cycle disorders using iPSCs

Claire Duff, Julien Baruteau

NPJ Regen Med. 2022; 7: 56. Published online 2022 Sep 26. doi: 10.1038/s41536-022-00252-5

PMCID:: PMC9513077

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Select item 945703310.

Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

Elena Martín-Hernández, Pilar Quijada-Fraile, Patricia Correcher, Silvia Meavilla, Paula Sánchez-Pintos, Javier de las Heras Montero, Javier Blasco-Alonso, Lucy Dougherty, Ana Marquez, Luis Peña-Quintana, Elvira Cañedo, María Concepción García-Jimenez, Pedro Juan Moreno Lozano, Mercedes Murray Hurtado, María Camprodon Gómez, Delia Barrio-Carreras, Mariela de los Santos, Mireia del Toro, María L. Couce, Isidro Vitoria Miñana, Montserrat Morales Conejo, Marcello Bellusci

J Clin Med. 2022 Sep; 11(17): 5045. Published online 2022 Aug 28. doi: 10.3390/jcm11175045

PMCID:: PMC9457033

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Select item 929186711.

Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time

Ioannis A. Ziogas, W. Kelly Wu, Lea K. Matsuoka, Anita K. Pai, Einar T. Hafberg, Lynette A. Gillis, Thomas M. Morgan, Sophoclis P. Alexopoulos

Liver Transpl. 2021 Dec; 27(12): 1799–1810. Published online 2021 Aug 1. doi: 10.1002/lt.26186

PMCID:: PMC9291867

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Select item 914012812.

Unmet Needs of Parents of Children with Urea Cycle Disorders

Mara Scharping, Heiko Brennenstuhl, Sven F. Garbade, Beate Wild, Roland Posset, Matthias Zielonka, Stefan Kölker, Markus W. Haun, Thomas Opladen

Children (Basel) 2022 May; 9(5): 712. Published online 2022 May 12. doi: 10.3390/children9050712

PMCID:: PMC9140128

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Select item 913762113.

Cardiac NF-κB Acetylation Increases While Nrf2-Related Gene Expression and Mitochondrial Activity Are Impaired during the Progression of Diabetes in UCD-T2DM Rats

Max A. Thorwald, Jose A. Godoy-Lugo, Ruben Rodriguez, Kimber L. Stanhope, James L. Graham, Peter J. Havel, Henry Jay Forman, Rudy M. Ortiz

Antioxidants (Basel) 2022 May; 11(5): 927. Published online 2022 May 9. doi: 10.3390/antiox11050927

PMCID:: PMC9137621

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Select item 889871214.

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders

Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

JIMD Rep. 2022 Mar; 63(2): 137–145. Published online 2022 Feb 2. doi: 10.1002/jmd2.12274

PMCID:: PMC8898712

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Select item 883996915.

Anthropometrics, Dietary Intake and Body Composition in Urea Cycle Disorders and Branched Chain Organic Acidemias: A Case Study of 18 Adults on Low-Protein Diets

Giorgia Gugelmo, Livia Lenzini, Francesco Francini-Pesenti, Ilaria Fasan, Paolo Spinella, Romina Valentini, Angela Miraval, Angelo Avogaro, Nicola Vitturi

Nutrients. 2022 Feb; 14(3): 467. Published online 2022 Jan 21. doi: 10.3390/nu14030467

PMCID:: PMC8839969

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Select item 874262416.

Comparison of Microflow and Analytical Flow Liquid Chromatography Coupled to Mass Spectrometry Global Metabolomics Methods Using a Urea Cycle Disorder Mouse Model

Sarah Geller, Harvey Lieberman, Adam J. Belanger, Nelson S. Yew, Alla Kloss, Alexander R. Ivanov

J Proteome Res. Author manuscript; available in PMC 2022 Jan 8.

Published in final edited form as: J Proteome Res. 2022 Jan 7; 21(1): 151–163. Published online 2021 Nov 29. doi: 10.1021/acs.jproteome.1c00628

PMCID:: PMC8742624

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Select item 867136717.

Fifteen years of urea cycle disorders brain research: Looking back, looking forward

Kuntal Sen, Matthew Whitehead, Carlos Castillo Pinto, Ljubica Caldovic, Andrea Gropman

Anal Biochem. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Anal Biochem. 2022 Jan 1; 636: 114343. Published online 2021 Oct 9. doi: 10.1016/j.ab.2021.114343

PMCID:: PMC8671367

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Select item 865585318.

Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders

Nicola Longo, George A. Diaz, Uta Lichter-Konecki, Andreas Schulze, Michal Inbar-Feigenberg, Robert L. Conway, Allison A. Bannick, Shawn E. McCandless, Roberto Zori, Bryan Hainline, Nicholas Ah Mew, Colleen Canavan, Thomas Vescio, Teresa Kok, Marty H. Porter, Susan A. Berry

Mol Genet Metab. Author manuscript; available in PMC 2021 Dec 9.

Published in final edited form as: Mol Genet Metab. 2021 Jan; 132(1): 19–26. Published online 2020 Dec 23. doi: 10.1016/j.ymgme.2020.12.002

PMCID:: PMC8655853

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Select item 854971119.

Hepatic Manifestations of Urea Cycle Disorders

Alanna Strong, Jessica Gold, Nina B. Gold, Marc Yudkoff

Clin Liver Dis (Hoboken) 2021 Oct; 18(4): 198–203. Published online 2021 Sep 1. doi: 10.1002/cld.1115

PMCID:: PMC8549711

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Select item 854602920.

The burden of pharmacological treatment on health-related quality of life in people with a urea cycle disorder: a qualitative study

Gillian Yeowell, Danielle Stephanie Burns, Francis Fatoye

J Patient Rep Outcomes. 2021 Dec; 5: 110. Published online 2021 Oct 25. doi: 10.1186/s41687-021-00387-x

PMCID:: PMC8546029

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