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Items: 1 to 20 of 491

1.
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency
Barbara Siri, Benedetta Greco, Diego Martinelli, Sara Cairoli, Alessia Guarnera, Daniela Longo, Antonio Napolitano, Chiara Parrillo, Lucilla Ravà, Raffaele Simeoli, Gionata Spagnoletti, Roberta Taurisano, Silvio Veraldi, Andrea Pietrobattista, Marco Spada, Carlo Dionisi‐Vici
J Inherit Metab Dis. 2025 Jan; 48(1): e12843. Published online 2025 Jan 7. doi: 10.1002/jimd.12843
PMCID:
PMC11706762
ArticlePDF–3.0M
2.
My path to citrin deficiency
John E. Walker
J Inherit Metab Dis. 2025 Jan; 48(1): e12818. Published online 2024 Nov 24. doi: 10.1002/jimd.12818
PMCID:
PMC11670154
ArticlePDF–4.5M
3.
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals
Nina N. Stolwijk, Johannes Häberle, Hidde H. Huidekoper, Margreet A. E. M. Wagenmakers, Carla E. M. Hollak, Annet M. Bosch, the E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management
J Inherit Metab Dis. 2025 Jan; 48(1): e12815. Published online 2024 Dec 3. doi: 10.1002/jimd.12815
PMCID:
PMC11670152
ArticlePDF–1.6M
4.
LINE‐1 hypomethylation characterizes the inflammatory response in coeliac disease associated‐intestinal mucosa and small bowel adenocarcinomas
Laura Libera, Alessandro Vanoli, Nora Sahnane, Muhammad Adnan, Camilla Guerini, Giovanni Arpa, Paola Ilaria Bianchi, Marco Vincenzo Lenti, Gino Roberto Corazza, Stefano La Rosa, Antonio Di Sabatino, Daniela Furlan
J Pathol. 2025 Jan; 265(1): 99–109. Published online 2024 Nov 27. doi: 10.1002/path.6371
PMCID:
PMC11638666
ArticlePDF–3.1M
5.
Nonhepatic Hyperammonemic Encephalopathy: An Unmasked Urea Cycle Disorder in the Setting of Late Gastric Bypass Complication
Rached Zeghlache, Tijana Samardzic, Katelyn Norman
ACG Case Rep J. 2024 Dec; 11(12): e01560. Published online 2024 Dec 9. doi: 10.14309/crj.0000000000001560
PMCID:
PMC11630914
ArticlePDF–172K
6.
Spontaneous baroreflex sensitivity is attenuated in male UCD-type 2 diabetes mellitus rats: a link between metabolic and autonomic dysfunction
Milena Samora, Yu Huo, Richard K. McCuller, Suchit Chidurala, Kimber L. Stanhope, Peter J. Havel, Audrey J. Stone, Michelle L. Harrison
Auton Neurosci. Author manuscript; available in PMC 2024 Dec 3.
Published in final edited form as: Auton Neurosci. 2023 Nov; 249: 103117. Published online 2023 Aug 23. doi: 10.1016/j.autneu.2023.103117
PMCID:
PMC11613953
ArticlePDF–787K
7.
Hyperornithinemia–Hyperammonemia–Homocitrullinuria Syndrome in Vietnamese Patients
Khanh Ngoc Nguyen, Van Khanh Tran, Ngoc Lan Nguyen, Thi Bich Ngoc Can, Thi Kim Giang Dang, Thu Ha Nguyen, Thi Thanh Mai Do, Le Thi Phuong, Thinh Huy Tran, Thanh Van Ta, Nguyen Huu Tu, Chi Dung Vu
Medicina (Kaunas) 2024 Nov; 60(11): 1877. Published online 2024 Nov 16. doi: 10.3390/medicina60111877
PMCID:
PMC11596723
ArticlePDF–756K
8.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
Sonam Gurung, Saketh Karamched, Dany Perocheau, Kiran K. Seunarine, Tom Baldwin, Haya Alrashidi, Loukia Touramanidou, Claire Duff, Nour Elkhateeb, Karolina M. Stepien, Reena Sharma, Andrew Morris, Thomas Hartley, Laura Crowther, Stephanie Grunewald, Maureen Cleary, Helen Mundy, Anupam Chakrapani, Spyros Batzios, James Davison, Emma Footitt, Karin Tuschl, Robin Lachmann, Elaine Murphy, Saikat Santra, Mari‐Liis Uudelepp, Mildrid Yeo, Patrick F. Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G. V. Martini, Andrea Frassetto, Simon Heales, Philippa B. Mills, Paul Gissen, Jonathan D. Clayden, Christopher A. Clark, Simon Eaton, Tammy L. Kalber, Julien Baruteau
J Inherit Metab Dis. 2024 Nov; 47(6): 1213–1227. Published online 2023 Dec 4. doi: 10.1002/jimd.12691
PMCID:
PMC11586606
ArticlePDF–2.8M
9.
Exploring RNA therapeutics for urea cycle disorders
Eva Richard, Ainhoa Martínez‐Pizarro, Lourdes R. Desviat
J Inherit Metab Dis. 2024 Nov; 47(6): 1269–1277. Published online 2024 Oct 24. doi: 10.1002/jimd.12807
PMCID:
PMC11586603
ArticlePDF–1.4M
10.
Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to N‐acetylglutamate synthase deficiency
Nadine Gougeard, Enea Sancho‐Vaello, M. Leonor Fernández‐Murga, Borja Martínez‐Sinisterra, Badr Loukili‐Hassani, Johannes Häberle, Clara Marco‐Marín, Vicente Rubio
J Inherit Metab Dis. 2024 Nov; 47(6): 1194–1212. Published online 2024 May 13. doi: 10.1002/jimd.12747
PMCID:
PMC11586601
ArticlePDF–7.6M
11.
Citrin deficiency—The East‐side story
Johannes Häberle
J Inherit Metab Dis. 2024 Nov; 47(6): 1129–1133. Published online 2024 Jul 12. doi: 10.1002/jimd.12772
PMCID:
PMC11586598
ArticlePDF–832K
12.
Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes
Ljubica Caldovic, Julie J. Ahn, Jacklyn Andricovic, Veronica M. Balick, Mallory Brayer, Pamela A. Chansky, Tyson Dawson, Alex C. Edwards, Sara E. Felsen, Karim Ismat, Sveta V. Jagannathan, Brendan T. Mann, Jacob A. Medina, Toshio Morizono, Michio Morizono, Shatha Salameh, Neerja Vashist, Emily C. Williams, Zhe Zhou, Hiroki Morizono
J Inherit Metab Dis. 2024 Nov; 47(6): 1175–1193. Published online 2023 Nov 5. doi: 10.1002/jimd.12687
PMCID:
PMC11586597
ArticlePDF–3.9M
13.
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition
Jun Kido, Georgios Makris, Saikat Santra, Johannes Häberle
J Inherit Metab Dis. 2024 Nov; 47(6): 1144–1156. Published online 2024 Mar 19. doi: 10.1002/jimd.12722
PMCID:
PMC11586594
ArticlePDF–1.9M
14.
The therapeutic landscape of citrin deficiency
Toni Vuković, Li Eon Kuek, Barbara Yu, Georgios Makris, Johannes Häberle
J Inherit Metab Dis. 2024 Nov; 47(6): 1157–1174. Published online 2024 Jul 17. doi: 10.1002/jimd.12768
PMCID:
PMC11586593
ArticlePDF–3.5M
15.
Quo vadis ureagenesis disorders? A journey from 90 years ago into the future
Johannes Häberle, Barbara Siri, Carlo Dionisi‐Vici
J Inherit Metab Dis. 2024 Nov; 47(6): 1120–1128. Published online 2024 Jun 4. doi: 10.1002/jimd.12763
PMCID:
PMC11586591
ArticlePDF–1.3M
16.
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Liliana Fernández-Hernández, Miriam Erandi Reyna-Fabián, Bernardette Estandía-Ortega, Sara Guillén-López, Lizbeth López-Mejía, Leticia Belmont-Martínez, Rosa Itzel Carrillo-Nieto, Isabel Ibarra-González, Seung-Woo Ryu, Hane Lee, Cynthia Fernández-Lainez
Int J Mol Sci. 2024 Nov; 25(21): 11722. Published online 2024 Oct 31. doi: 10.3390/ijms252111722
PMCID:
PMC11546494
ArticlePDF–1.2M
17.
Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport
Sotiria Tavoulari, Denis Lacabanne, Gonçalo C. Pereira, Chancievan Thangaratnarajah, Martin S. King, Jiuya He, Suvagata R. Chowdhury, Lisa Tilokani, Shane M. Palmer, Julien Prudent, John E. Walker, Edmund R.S. Kunji
Mol Metab. 2024 Dec; 90: 102047. Published online 2024 Oct 16. doi: 10.1016/j.molmet.2024.102047
PMCID:
PMC11539162
ArticlePDF–5.0M
18.
Benchmarking of an Intervention Aiming at the Micro-Elimination of Hepatitis C in Vulnerable Populations in Perpignan, France, to Inform Scale-Up and Elimination on the French Territory
Gordana Avramovic, Laura O’Doherty, Tina McHugh, Andre Jean Remy, Arnaud Happiette, Hakim Bouchkira, Philippe Murat, Olivier Scemama, Adrien Esclade, Maria Isabel Farfan Camacho, Walter Cullen, John S. Lambert
Viruses. 2024 Oct; 16(10): 1645. Published online 2024 Oct 21. doi: 10.3390/v16101645
PMCID:
PMC11512308
ArticlePDF–650K
19.
Management of a urea cycle disorder in the setting of socioeconomic and language barriers
Erika Vucko, Joshua Baker, Karen Becker, Kirsten Havens, Katherine Arduini, Soo Shim
Mol Genet Metab Rep. 2024 Aug; 39(Suppl 1): 101108. Published online 2024 Jun 25. doi: 10.1016/j.ymgmr.2024.101108
PMCID:
PMC11412918
ArticlePDF–392K
20.
Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China
Gaopin Yuan, Zhiyong Liu, Zhixu Chen, Xiaohong Zhang, Weifeng Zhang, Dongmei Chen
Ital J Pediatr. 2024; 50: 171. Published online 2024 Sep 11. doi: 10.1186/s13052-024-01740-8
PMCID:
PMC11389275
ArticlePDF–1.1M

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