早期铜-组氨酸治疗门克斯病。 - Suppr

Suppr

超能文献

Early copper-histidine treatment for Menkes disease.

作者信息

Tümer Z, Horn N, Tønnesen T, Christodoulou J, Clarke J T, Sarkar B

出版信息

Nat Genet. 1996 Jan;12(1):11-3. doi: 10.1038/ng0196-11.

DOI:10.1038/ng0196-11

PMID:8528242

Abstract

摘要

相似文献

Early copper-histidine treatment for Menkes disease.

Nat Genet. 1996 Jan;12(1):11-3. doi: 10.1038/ng0196-11.

Early copper therapy in classic Menkes disease patients with a novel splicing mutation.

Ann Neurol. 1995 Dec;38(6):921-8. doi: 10.1002/ana.410380613.

[Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections].

No To Hattatsu. 2014 May;46(3):227-8.

Treatment of Menkes disease with parenteral copper histidine.

Indian Pediatr. 2002 Feb;39(2):183-5.

[Manufacturing and stability of copper-histidine solution for treatment of Menkes' Kinky Hair Syndrome].

Pharmazie. 2005 Mar;60(3):205-7.

Copper-histidine treatment of Menkes disease.

J Pediatr. 1994 Aug;125(2):336-8. doi: 10.1016/s0022-3476(94)70236-5.

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.

Eur J Pediatr. 1993 Oct;152(10):828-32. doi: 10.1007/BF02073380.

[Intramuscular copper histidine treatment in Menkes disease].

No To Hattatsu. 1992 May;24(3):296-8.

Menkes' Kinky Hair disease: new considerations.

Indian Pediatr. 1996 Nov;33(11):956-60.

Copper infusion therapy in Menkes syndrome.

J Med Assoc Thai. 1984 Aug;67(8):456-60.

引用本文的文献

Mammalian copper homeostasis: physiological roles and molecular mechanisms.

Physiol Rev. 2025 Jan 1;105(1):441-491. doi: 10.1152/physrev.00011.2024. Epub 2024 Aug 22.

Early clinical signs and treatment of Menkes disease.

Mol Genet Metab Rep. 2022 Feb 17;31:100849. doi: 10.1016/j.ymgmr.2022.100849. eCollection 2022 Jun.

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

Mol Genet Genomic Med. 2019 Aug;7(8):e829. doi: 10.1002/mgg3.829. Epub 2019 Jun 28.

Mottled Mice and Non-Mammalian Models of Menkes Disease.

Front Mol Neurosci. 2015 Dec 18;8:72. doi: 10.3389/fnmol.2015.00072. eCollection 2015.

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Metab Brain Dis. 2015 Feb;30(1):75-81. doi: 10.1007/s11011-014-9569-5. Epub 2014 Jun 13.

Nanopore detection of copper ions using a polyhistidine probe.

Biosens Bioelectron. 2014 Mar 15;53:453-8. doi: 10.1016/j.bios.2013.10.013. Epub 2013 Oct 23.

Biometals in rare neurodegenerative disorders of childhood.

Front Aging Neurosci. 2013 Mar 25;5:14. doi: 10.3389/fnagi.2013.00014. eCollection 2013.

Nat Rev Neurol. 2011 Jan;7(1):15-29. doi: 10.1038/nrneurol.2010.180.

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.

Mol Genet Metab. 2008 Nov;95(3):174-81. doi: 10.1016/j.ymgme.2008.06.015. Epub 2008 Aug 26.

Neonatal diagnosis and treatment of Menkes disease.

N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613.

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

相似文献

Early copper-histidine treatment for Menkes disease.

Nat Genet. 1996 Jan;12(1):11-3. doi: 10.1038/ng0196-11.

Early copper therapy in classic Menkes disease patients with a novel splicing mutation.

Ann Neurol. 1995 Dec;38(6):921-8. doi: 10.1002/ana.410380613.

[Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections].

No To Hattatsu. 2014 May;46(3):227-8.

Treatment of Menkes disease with parenteral copper histidine.

Indian Pediatr. 2002 Feb;39(2):183-5.

[Manufacturing and stability of copper-histidine solution for treatment of Menkes' Kinky Hair Syndrome].

Pharmazie. 2005 Mar;60(3):205-7.

Copper-histidine treatment of Menkes disease.

J Pediatr. 1994 Aug;125(2):336-8. doi: 10.1016/s0022-3476(94)70236-5.

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.

Eur J Pediatr. 1993 Oct;152(10):828-32. doi: 10.1007/BF02073380.

[Intramuscular copper histidine treatment in Menkes disease].

No To Hattatsu. 1992 May;24(3):296-8.

Menkes' Kinky Hair disease: new considerations.

Indian Pediatr. 1996 Nov;33(11):956-60.

Copper infusion therapy in Menkes syndrome.

J Med Assoc Thai. 1984 Aug;67(8):456-60.

引用本文的文献

Mammalian copper homeostasis: physiological roles and molecular mechanisms.

Physiol Rev. 2025 Jan 1;105(1):441-491. doi: 10.1152/physrev.00011.2024. Epub 2024 Aug 22.

Early clinical signs and treatment of Menkes disease.

Mol Genet Metab Rep. 2022 Feb 17;31:100849. doi: 10.1016/j.ymgmr.2022.100849. eCollection 2022 Jun.

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

Mol Genet Genomic Med. 2019 Aug;7(8):e829. doi: 10.1002/mgg3.829. Epub 2019 Jun 28.

Mottled Mice and Non-Mammalian Models of Menkes Disease.

Front Mol Neurosci. 2015 Dec 18;8:72. doi: 10.3389/fnmol.2015.00072. eCollection 2015.

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Metab Brain Dis. 2015 Feb;30(1):75-81. doi: 10.1007/s11011-014-9569-5. Epub 2014 Jun 13.

Nanopore detection of copper ions using a polyhistidine probe.

Biosens Bioelectron. 2014 Mar 15;53:453-8. doi: 10.1016/j.bios.2013.10.013. Epub 2013 Oct 23.

Biometals in rare neurodegenerative disorders of childhood.

Front Aging Neurosci. 2013 Mar 25;5:14. doi: 10.3389/fnagi.2013.00014. eCollection 2013.

Nat Rev Neurol. 2011 Jan;7(1):15-29. doi: 10.1038/nrneurol.2010.180.

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.

Mol Genet Metab. 2008 Nov;95(3):174-81. doi: 10.1016/j.ymgme.2008.06.015. Epub 2008 Aug 26.

Neonatal diagnosis and treatment of Menkes disease.

N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613.