伴有精氨酸酶缺乏的高精氨酸血症 - Suppr

Suppr

超能文献

Hyperargininemia with arginase deficiency.

作者信息

Cederbaum S D, Shaw K N, Spector E B, Verity M A, Snodgrass P J, Sugarman G I

出版信息

Pediatr Res. 1979 Jul;13(7):827-33. doi: 10.1203/00006450-197907000-00007.

DOI:10.1203/00006450-197907000-00007

PMID:481955

Abstract

摘要

相似文献

Hyperargininemia with arginase deficiency.

Pediatr Res. 1979 Jul;13(7):827-33. doi: 10.1203/00006450-197907000-00007.

[Hyperargininemia with arginase deficiency. A new familial metabolic disease. II. Biochemical studies].

Z Kinderheilkd. 1970;107(4):313-23.

Hyperargininemia, epilepsy and the metabolism of guanidino compounds.

Padiatr Grenzgeb. 1989;28(2):101-6.

[Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies].

Z Kinderheilkd. 1970;107(4):298-312.

Arginase and free amino acids in hyperargininemia: leukocyte arginine as a diagnostic parameter for heterozygotes.

J Clin Chem Clin Biochem. 1979 Apr;17(4):211-7. doi: 10.1515/cclm.1979.17.4.211.

Liver fibrosis in arginase deficiency.

Arch Pathol Lab Med. 1987 Aug;111(8):691-2.

Ammonia metabolism in a family affected by hyperargininemia.

Diabete Metab. 1981 Mar;7(1):5-11.

Familial hyperargininemia.

J Genet Hum. 1972 Mar;20(1):69-84.

Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.

Hum Mutat. 1994;4(2):150-4. doi: 10.1002/humu.1380040210.

Adult-onset arginase deficiency.

J Inherit Metab Dis. 1998 Aug;21(6):677-8. doi: 10.1023/a:1005492819527.

引用本文的文献

The role and control of arginine levels in arginase 1 deficiency.

J Inherit Metab Dis. 2023 Jan;46(1):3-14. doi: 10.1002/jimd.12564. Epub 2022 Oct 13.

The effect of liver transplantation for argininemia-the largest experiences in a single center.

Transl Pediatr. 2022 Apr;11(4):495-504. doi: 10.21037/tp-21-576.

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.

J Inherit Metab Dis. 2021 Jul;44(4):847-856. doi: 10.1002/jimd.12343. Epub 2021 Jan 26.

Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy.

Ann Indian Acad Neurol. 2020 May-Jun;23(3):380-381. doi: 10.4103/aian.AIAN_130_19. Epub 2020 Jun 10.

Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development.

JCI Insight. 2019 Sep 5;4(17):130260. doi: 10.1172/jci.insight.130260.

Arginase I mRNA therapy - a novel approach to rescue arginase 1 enzyme deficiency.

RNA Biol. 2018;15(7):914-922. doi: 10.1080/15476286.2018.1475178. Epub 2018 Jul 24.

Arginase-1 deficiency.

J Mol Med (Berl). 2015 Dec;93(12):1287-96. doi: 10.1007/s00109-015-1354-3. Epub 2015 Oct 14.

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Hum Mol Genet. 2015 Nov 15;24(22):6417-27. doi: 10.1093/hmg/ddv352. Epub 2015 Sep 10.

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Mol Genet Metab. 2011 Sep-Oct;104(1-2):107-11. doi: 10.1016/j.ymgme.2011.06.025. Epub 2011 Jul 13.

Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.

Pediatr Neurol. 2010 Jan;42(1):49-52. doi: 10.1016/j.pediatrneurol.2009.07.017.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Hyperargininemia with arginase deficiency.

作者信息

Cederbaum S D, Shaw K N, Spector E B, Verity M A, Snodgrass P J, Sugarman G I

出版信息

Pediatr Res. 1979 Jul;13(7):827-33. doi: 10.1203/00006450-197907000-00007.

DOI:10.1203/00006450-197907000-00007

PMID:481955

Abstract

摘要

相似文献

Hyperargininemia with arginase deficiency.

Pediatr Res. 1979 Jul;13(7):827-33. doi: 10.1203/00006450-197907000-00007.

[Hyperargininemia with arginase deficiency. A new familial metabolic disease. II. Biochemical studies].

Z Kinderheilkd. 1970;107(4):313-23.

Hyperargininemia, epilepsy and the metabolism of guanidino compounds.

Padiatr Grenzgeb. 1989;28(2):101-6.

[Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies].

Z Kinderheilkd. 1970;107(4):298-312.

Arginase and free amino acids in hyperargininemia: leukocyte arginine as a diagnostic parameter for heterozygotes.

J Clin Chem Clin Biochem. 1979 Apr;17(4):211-7. doi: 10.1515/cclm.1979.17.4.211.

Liver fibrosis in arginase deficiency.

Arch Pathol Lab Med. 1987 Aug;111(8):691-2.

Ammonia metabolism in a family affected by hyperargininemia.

Diabete Metab. 1981 Mar;7(1):5-11.

Familial hyperargininemia.

J Genet Hum. 1972 Mar;20(1):69-84.

Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.

Hum Mutat. 1994;4(2):150-4. doi: 10.1002/humu.1380040210.

Adult-onset arginase deficiency.

J Inherit Metab Dis. 1998 Aug;21(6):677-8. doi: 10.1023/a:1005492819527.

引用本文的文献

The role and control of arginine levels in arginase 1 deficiency.

J Inherit Metab Dis. 2023 Jan;46(1):3-14. doi: 10.1002/jimd.12564. Epub 2022 Oct 13.

The effect of liver transplantation for argininemia-the largest experiences in a single center.

Transl Pediatr. 2022 Apr;11(4):495-504. doi: 10.21037/tp-21-576.

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.

J Inherit Metab Dis. 2021 Jul;44(4):847-856. doi: 10.1002/jimd.12343. Epub 2021 Jan 26.

Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy.

Ann Indian Acad Neurol. 2020 May-Jun;23(3):380-381. doi: 10.4103/aian.AIAN_130_19. Epub 2020 Jun 10.

Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development.

JCI Insight. 2019 Sep 5;4(17):130260. doi: 10.1172/jci.insight.130260.

Arginase I mRNA therapy - a novel approach to rescue arginase 1 enzyme deficiency.

RNA Biol. 2018;15(7):914-922. doi: 10.1080/15476286.2018.1475178. Epub 2018 Jul 24.

Arginase-1 deficiency.

J Mol Med (Berl). 2015 Dec;93(12):1287-96. doi: 10.1007/s00109-015-1354-3. Epub 2015 Oct 14.

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Hum Mol Genet. 2015 Nov 15;24(22):6417-27. doi: 10.1093/hmg/ddv352. Epub 2015 Sep 10.

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Mol Genet Metab. 2011 Sep-Oct;104(1-2):107-11. doi: 10.1016/j.ymgme.2011.06.025. Epub 2011 Jul 13.

Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.

Pediatr Neurol. 2010 Jan;42(1):49-52. doi: 10.1016/j.pediatrneurol.2009.07.017.