Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia-Reference-Cited by-同舟云学术

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Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia

Published:2018-06-30 Issue:5 Volume:33 Page:1775-1778
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Yucel Husniye,Kasapkara Çiğdem Seher,Akcaboy Meltem,Aksoy Erhan,Sahin Gülseren Evirgen,Derinkuyu Betul Emine,Senel Saliha,Ceylaner Serdar

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-018-0281-8/fulltext.html

Reference9 articles.

1. Baranello G, Alfei E, Martinelli D, Rizzetto M, Cazzaniga F, Dionisi-Vici C, Gellera C, Castellotti B (2014) Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene. Pediatr Neurol 51:430–433

2. Gomes Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L (2010) Neonatal cholestasis: an uncommon presentation of hyperargininemia. J Inherit Metab Dis 33(Suppl 3):S503–S506

3. Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A (2011) Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? MolGenet Metab 104:107–111

4. King N, Alvizures R, García P, Wessel A, Rohloff P (2016) Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report. BMC Pediatr 16:142

5. Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW (2011) Argininemia presenting with progressive spastic diplegia. Pediatr Neurol 44:218–220

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics;Genetics in Medicine Open;2024

2. Biomarkers for liver disease in urea cycle disorders;Molecular Genetics and Metabolism;2021-06

3. A Rare Cause of Spasticity and Microcephaly: Argininemia;Turkish Journal Of Neurology;2020-10-13

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