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Items: 1 to 20 of 84

1.
Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression
Jordan Kho, Urszula Polak, Ming-Ming Jiang, John D. Odom, Jill V. Hunter, Saima M. Ali, Lindsay C. Burrage, Sandesh C.S. Nagamani, Robia G. Pautler, Hannah P. Thompson, Akihiko Urayama, Zixue Jin, Brendan Lee
JCI Insight. 2023 Sep 8; 8(17): e168475. Published online 2023 Sep 8. doi: 10.1172/jci.insight.168475
PMCID:
PMC10544197
AbstractArticlePDF–1.8M
2.
ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model
Owen Daly, Azita Josefine Mahiny, Sara Majeski, Kevin McClintock, Julia Reichert, Gábor Boros, Gábor Tamás Szabó, Jonas Reinholz, Petra Schreiner, Steve Reid, Kieu Lam, Marlen Lepper, Melanie Adler, Tracy Meffen, James Heyes, Katalin Karikó, Pete Lutwyche, Irena Vlatkovic
Biomedicines. 2023 Jun; 11(6): 1735. Published online 2023 Jun 16. doi: 10.3390/biomedicines11061735
PMCID:
PMC10296609
AbstractArticlePDF–2.7M
3.
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara
Hum Genome Var. 2022; 9: 32. Published online 2022 Sep 12. doi: 10.1038/s41439-022-00211-y
PMCID:
PMC9468177
AbstractArticlePDF–1.1M
4.
Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
Laurent Leuger, Xavier Dieu, Juan Manuel Chao de la Barca, Mikael Moriconi, Guillaume Halley, Xavier Donin de Rosière, Pascal Reynier, Delphine Mirebeau‐Prunier, Chadi Homedan
JIMD Rep. 2021 Nov; 62(1): 44–48. Published online 2021 Sep 26. doi: 10.1002/jmd2.12251
PMCID:
PMC8574183
AbstractArticlePDF–1.0M
5.
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency
Krystyna Ediger, Anne Hicks, Komudi Siriwardena, Chloe Joynt
BMJ Case Rep. 2021; 14(3): e241032. Published online 2021 Mar 31. doi: 10.1136/bcr-2020-241032
PMCID:
PMC8016098
AbstractArticlePDF–172K
6.
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria
Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Justyna Spiewak, Abigail R. Barber, Richard S. Edwards, Patricia Lipari Pinto, Patrick F. Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G.V. Martini, Deborah Ridout, Wendy Heywood, Ian Hargreaves, Simon Heales, Philippa B. Mills, Simon N. Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H. Witney, Julien Baruteau
Sci Transl Med. Author manuscript; available in PMC 2024 Jan 17.
Published in final edited form as: Sci Transl Med. 2024 Jan 10; 16(729): eadh1334. Published online 2024 Jan 10. doi: 10.1126/scitranslmed.adh1334
PMCID:
PMC7615535
AbstractArticlePDF–2.6M
7.
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
Matthias Zielonka, Sven F. Garbade, Florian Gleich, Jürgen G. Okun, Sandesh C. S. Nagamani, Andrea L. Gropman, Georg F. Hoffmann, Stefan Kölker, Roland Posset, UCDC and the E-IMD consortia study group
Hum Mutat. Author manuscript; available in PMC 2021 May 1.
Published in final edited form as: Hum Mutat. 2020 May; 41(5): 946–960. Published online 2020 Jan 30. doi: 10.1002/humu.23983
PMCID:
PMC7428858
AbstractArticlePDF–1.6M
8.
Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report
Yoshimitsu Osawa, Aya Wada, Yoshiaki Ohtsu, Kenji Yamada, Takumi Takizawa
Mol Genet Metab Rep. 2020 Sep; 24: 100605. Published online 2020 May 15. doi: 10.1016/j.ymgmr.2020.100605
PMCID:
PMC7232106
AbstractArticlePDF–288K
9.
Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency
Ernie Zuraida Ali, Yusnita Yakob, Lock Hock Ngu
Mol Genet Metab Rep. 2019 Dec; 21: 100525. Published online 2019 Oct 24. doi: 10.1016/j.ymgmr.2019.100525
PMCID:
PMC6831900
AbstractArticlePDF–1.4M
10.
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
Mei Zhao, Lingling Hou, Huajing Teng, Jinchen Li, Jiesi Wang, Kunlin Zhang, Lin Yang
Biomed Res Int. 2019; 2019: 3530198. Published online 2019 Apr 30. doi: 10.1155/2019/3530198
PMCID:
PMC6515145
AbstractArticlePDF–1.4M
11.
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer
Julien Baruteau, Dany P. Perocheau, Joanna Hanley, Maëlle Lorvellec, Eridan Rocha-Ferreira, Rajvinder Karda, Joanne Ng, Natalie Suff, Juan Antinao Diaz, Ahad A. Rahim, Michael P. Hughes, Blerida Banushi, Helen Prunty, Mariya Hristova, Deborah A. Ridout, Alex Virasami, Simon Heales, Stewen J. Howe, Suzanne M. K. Buckley, Philippa B. Mills, Paul Gissen, Simon N. Waddington
Nat Commun. 2018; 9: 3505. Published online 2018 Aug 29. doi: 10.1038/s41467-018-05972-1
PMCID:
PMC6115417
AbstractArticlePDF–2.2M
12.
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen
Rebecca D. Ganetzky, Emma Bedoukian, Matthew A. Deardorff, Can Ficicioglu
JIMD Rep. 2017; 34: 43–47. Published online 2016 Aug 12. doi: 10.1007/8904_2016_2
PMCID:
PMC5509549
AbstractArticlePDF–129K
13.
Expanding the phenotype in argininosuccinic aciduria: need for new therapies
Julien Baruteau, Elisabeth Jameson, Andrew A. Morris, Anupam Chakrapani, Saikat Santra, Suresh Vijay, Huriye Kocadag, Clare E. Beesley, Stephanie Grunewald, Elaine Murphy, Maureen Cleary, Helen Mundy, Lara Abulhoul, Alexander Broomfield, Robin Lachmann, Yusof Rahman, Peter H. Robinson, Lesley MacPherson, Katharine Foster, W. Kling Chong, Deborah A. Ridout, Kirsten McKay Bounford, Simon N. Waddington, Philippa B. Mills, Paul Gissen, James E. Davison
J Inherit Metab Dis. 2017; 40(3): 357–368. Published online 2017 Mar 1. doi: 10.1007/s10545-017-0022-x
PMCID:
PMC5393288
AbstractArticlePDF–630K
14.
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency
M. Stuy, G.-F. Chen, J.M. Masonek, B.F. Scharschmidt
Mol Genet Metab Rep. 2015 Sep; 4: 6–8. Published online 2015 May 28. doi: 10.1016/j.ymgmr.2015.03.008
PMCID:
PMC4750572
AbstractArticlePDF–170K
15.
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study
Wei Wen, Dan Yin, Fangfang Huang, Meng Guo, Tian Tian, Hui Zhu, Yun Yang
BMC Med Genet. 2016; 17: 9. Published online 2016 Feb 3. doi: 10.1186/s12881-016-0273-7
PMCID:
PMC4739340
AbstractArticlePDF–508K
16.
One Year Experience of Pheburane® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency
Sema Kalkan Uçar, Burcu Ozbaran, Yasemin Atik Altinok, Melis Kose, Ebru Canda, Mehtap Kagnici, Mahmut Coker
JIMD Rep. 2015; 19: 31–33. Published online 2015 Feb 10. doi: 10.1007/8904_2014_361
PMCID:
PMC4501229
AbstractArticlePDF–88K
17.
Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria
Liyan Hu, Amit V. Pandey, Sandra Eggimann, Véronique Rüfenacht, Dorothea Möslinger, Jean-Marc Nuoffer, Johannes Häberle
J Biol Chem. 2013 Nov 29; 288(48): 34599–34611. Published online 2013 Oct 17. doi: 10.1074/jbc.M113.503128
PMCID:
PMC3843073
AbstractArticlePDF–3.1M
18.
Argininosuccinate Lyase Deficiency
Sandesh C. Sreenath Nagamani, Ayelet Erez, Brendan Lee
Genet Med. Author manuscript; available in PMC 2013 Jul 12.
Published in final edited form as: Genet Med. 2012 May; 14(5): 501–507. Published online 2012 Jan 5. doi: 10.1038/gim.2011.1
PMCID:
PMC3709024
AbstractArticlePDF–955K
19.
The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy
Rosanne Peuscher, Monique E. Dijsselhof, Nico G. Abeling, Margreet Van Rijn, Francjan J. Van Spronsen, Annet M. Bosch
JIMD Rep. 2012; 5: 127–130. Published online 2011 Dec 25. doi: 10.1007/8904_2011_115
PMCID:
PMC3509918
AbstractArticlePDF–74K
20.
A Randomized Controlled Trial to Evaluate the Effects of High-Dose versus Low-Dose of Arginine Therapy on Hepatic Function Tests in Argininosuccinic Aciduria
Sandesh CS Nagamani, Oleg A Shchelochkov, Mary A Mullins, Susan Carter, Brendan C. Lanpher, Qin Sun, Soledad Kleppe, Ayelet Erez, E O’Brian Smith, Juan Marini, Members of the Urea Cycle Disorders Consortium, Brendan Lee
Mol Genet Metab. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Mol Genet Metab. 2012 Nov; 107(3): 315–321. Published online 2012 Sep 17. doi: 10.1016/j.ymgme.2012.09.016
PMCID:
PMC3483446
AbstractArticlePDF–1.5M

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