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Items: 1 to 20 of 297

1.
Plasma arginine levels in arginase deficiency in the “real world”
Pranoot Tanpaiboon, Yue Huang, Judy Z. Louie, Rajesh Sharma, Stephen Cederbaum, Denise Salazar
Mol Genet Metab Rep. 2024 Mar; 38: 101042. Published online 2023 Dec 28. doi: 10.1016/j.ymgmr.2023.101042
PMCID:
PMC10787283
ArticlePDF–995K
2.
Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin
Shelby L. Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup, Deborah L. Brown, David Rodriguez‐Buritica, Laura S. Farach
JIMD Rep. 2023 Nov; 64(6): 434–439. Published online 2023 Oct 21. doi: 10.1002/jmd2.12397
PMCID:
PMC10623097
ArticlePDF–758K
3.
Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report
Noboru Kuyama, Shigeru Nagaki, Akie Miyamoto, Kaoru Etou, Hiroshi Maruyama, Makiko Osawa
SAGE Open Med Case Rep. 2023; 11: 2050313X231181836. Published online 2023 Jun 23. doi: 10.1177/2050313X231181836
PMCID:
PMC10291395
ArticlePDF–1022K
4.
Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort
Narmadham K. Bharathi, Maya Mary Thomas, Sangeetha Yoganathan, Mahalakshmi Chandran, Rekha Aaron, Sumita Danda
Ann Indian Acad Neurol. 2022 Nov-Dec; 25(6): 1104–1108. Published online 2022 Dec 3. doi: 10.4103/aian.aian_612_22
PMCID:
PMC9996474
ArticlePDF–507K
5.
Recent tPA administration can cause pseudo‐hyperargininemia and may mimic arginase deficiency or arginine supplementation
Kristina P. Cusmano‐Ozog, Alicia K. Renck, Christina G. Tise
JIMD Rep. 2022 Nov; 63(6): 563–567. Published online 2022 Oct 13. doi: 10.1002/jmd2.12328
PMCID:
PMC9626670
ArticlePDF–716K
6.
Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency
Suhail Khoja, Xiao-Bo Liu, Brian Truong, Matthew Nitzahn, Jenna Lambert, Adam Eliav, Eram Nasser, Emma Randolph, Kristine E. Burke, Rebecca White, Xuling Zhu, Paolo G.V. Martini, Itzhak Nissim, Stephen D. Cederbaum, Gerald S. Lipshutz
Mol Ther Nucleic Acids. 2022 Jun 14; 28: 859–874. Published online 2022 Apr 27. doi: 10.1016/j.omtn.2022.04.012
PMCID:
PMC9156989
ArticlePDF–3.5M
7.
The effect of liver transplantation for argininemia—the largest experiences in a single center
Bin Cui, Lin Wei, Li-Ying Sun, Wei Qu, Zhi-Gui Zeng, Ying Liu, Zhi-Jun Zhu
Transl Pediatr. 2022 Apr; 11(4): 495–504. doi: 10.21037/tp-21-576
PMCID:
PMC9085954
ArticlePDF–707K
8.
Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children
Anasufiza Habib, Norashareena Mohamed Shakrin
Clin Pathol. 2022 Jan-Dec; 15: 2632010X221093274. Published online 2022 Apr 17. doi: 10.1177/2632010X221093274
PMCID:
PMC9019381
ArticlePDF–475K
9.
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
Nandaki Keshavan, Michelle Wood, Lucy M. Alderson, Mario Cortina‐Borja, Rachel Skeath, Mel McSweeney, Marjorie Dixon, Maureen A. Cleary, Emma Footitt, Spyros Batzios
JIMD Rep. 2022 Mar; 63(2): 123–130. Published online 2021 Dec 30. doi: 10.1002/jmd2.12266
PMCID:
PMC8898719
ArticlePDF–2.4M
10.
Neurophysiological characteristics in argininemia: a case report
Bin Cui, Lin Wei, Zhi-Jun Zhu, Li-Ying Sun
Transl Pediatr. 2021 Jul; 10(7): 1947–1951. doi: 10.21037/tp-21-112
PMCID:
PMC8349968
ArticlePDF–577K
11.
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia
Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Stephen Cederbaum, Felicitas L. Lacbawan, Charles M. Rowland, Pranoot Tanpaiboon, Denise Salazar
Mol Genet Metab Rep. 2021 Jun; 27: 100735. Published online 2021 Mar 3. doi: 10.1016/j.ymgmr.2021.100735
PMCID:
PMC7937551
ArticlePDF–1.6M
12.
A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report
Dongqing Cui, Yanxia Liu, Liang Jin, Liping Hu, Lili Cao
Medicine (Baltimore) 2020 Aug 7; 99(32): e21634. Published online 2020 Aug 7. doi: 10.1097/MD.0000000000021634
PMCID:
PMC7593080
ArticlePDF–370K
13.
Arginase Deficiency Presenting as Acute Encephalopathy
Leema Pauline Cornelius, Vivekasaravanan Raju, Asir Julin
J Pediatr Neurosci. 2019 Jul-Sep; 14(3): 133–136. Published online 2019 Sep 27. doi: 10.4103/jpn.JPN_36_19
PMCID:
PMC6798281
Article
14.
Hyperargininemia Experiences over Last 7 Years from a Tertiary Care Center
Sadanandavalli Retnaswami Chandra, Rita Christopher, Chakravarthula Nitin Ramanujam, Ganaraja Valakunja Harikrishna
J Pediatr Neurosci. 2019 Jan-Mar; 14(1): 2–6. doi: 10.4103/jpn.JPN_1_19
PMCID:
PMC6601119
Article
15.
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism
Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri
Front Neurol. 2019; 10: 131. Published online 2019 Feb 22. doi: 10.3389/fneur.2019.00131
PMCID:
PMC6395431
ArticlePDF–1.2M
16.
A case report of neurological complications owing to lately diagnosed hyperargininemia emphasizing the role of national neonatal screening policies in the kingdom of Bahrain
Moiz Bakhiet, Aminah M. I. AlAwadi, Maryam M. AlHammadi, Maryam F. Ali, Noora Butti
Medicine (Baltimore) 2018 May; 97(20): e10780. Published online 2018 May 18. doi: 10.1097/MD.0000000000010780
PMCID:
PMC5976310
ArticlePDF–154K
17.
Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report
Xiaotang Cai, Dan Yu, Yongmei Xie, Hui Zhou
Medicine (Baltimore) 2018 Feb; 97(7): e9880. Published online 2018 Feb 16. doi: 10.1097/MD.0000000000009880
PMCID:
PMC5839826
ArticlePDF–322K
18.
Argininemia and plasma arginine bioavailability – predictive factors of mortality in the severe trauma patients?
Beatriz P. Costa, Paulo Martins, Carla Veríssimo, Marta Simões, Marisa Tomé, Manuela Grazina, Jorge Pimentel, Francisco Castro-Sousa
Nutr Metab (Lond) 2016; 13(1): 60. Published online 2016 Aug 31. doi: 10.1186/s12986-016-0118-6
PMCID:
PMC5006376
ArticlePDF–1000K
19.
Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report
Nora King, Romina Alvizures, Pablo García, Ann Wessel, Peter Rohloff
BMC Pediatr. 2016; 16(1): 142. Published online 2016 Aug 22. doi: 10.1186/s12887-016-0668-9
PMCID:
PMC4994184
ArticlePDF–390K
20.
Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal
Ann Indian Acad Neurol. 2016 Jul-Sep; 19(3): 392–394. doi: 10.4103/0972-2327.167701
PMCID:
PMC4980967
ArticlePDF–725K

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