两名同胞中同型胱氨酸尿症的不同表型表现。 - Suppr

Suppr

超能文献

Varied phenotypic presentations of homocystinuria in two siblings.

作者信息

Kaliaperumal Subashini, Kumar K Praveen

机构信息

Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

出版信息

Indian J Ophthalmol. 2014 Jan;62(1):93-4. doi: 10.4103/0301-4738.126190.

DOI:10.4103/0301-4738.126190

PMID:24492508

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3955077/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6eb1/3955077/36c9f169e945/IJO-62-93-g001.jpg

相似文献

Varied phenotypic presentations of homocystinuria in two siblings.

Indian J Ophthalmol. 2014 Jan;62(1):93-4. doi: 10.4103/0301-4738.126190.

Varied phenotype of homocystinuria: possible diagnostic error.

Indian J Ophthalmol. 2014 Jul;62(7):835. doi: 10.4103/0301-4738.138637.

Authors' reply: Comment to varied phenotype of Homocystinuria: possible diagnostic error.

Indian J Ophthalmol. 2014 Aug;62(8):897. doi: 10.4103/0301-4738.141074.

Homocystinuria and ectopia lentis.

J Am Optom Assoc. 1984 Apr;55(4):269-76.

The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective.

Int Ophthalmol. 2016 Feb;36(1):79-83. doi: 10.1007/s10792-015-0074-6. Epub 2015 May 17.

[Surgical treatment of dislocation of the crystalline lens].

J Fr Ophtalmol. 1985;8(12):823-31.

Ectopia lentis.

Surv Ophthalmol. 1982 Nov-Dec;27(3):143-60. doi: 10.1016/0039-6257(82)90069-8.

[Homocystinuria in Israel].

Harefuah. 1988 Nov 1;115(9):221-4.

Homocystinuria and Marfanoid appearance.

Bull Soc Belge Ophtalmol. 1980;191:29-37.

[Eye manifestations in homocystinuria].

Cesk Oftalmol. 1987 Jul;43(4):267-70.

引用本文的文献

Nontraumatic bilateral inferior ectopia lentis.

Oman J Ophthalmol. 2023 Feb 21;16(1):195-196. doi: 10.4103/ojo.ojo_278_2019. eCollection 2023 Jan-Apr.

The Genetics of Pneumothorax.

Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI.

Pharmacological Actions of Hydrogen Sulfide Donors on Sympathetic Neurotransmission in the Bovine Anterior Uvea, In Vitro.

Neurochem Res. 2016 May;41(5):1020-8. doi: 10.1007/s11064-015-1784-x. Epub 2015 Dec 23.

Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.

Iran J Child Neurol. 2015 Spring;9(2):53-7.

Authors' reply: Comment to varied phenotype of Homocystinuria: possible diagnostic error.

Indian J Ophthalmol. 2014 Aug;62(8):897. doi: 10.4103/0301-4738.141074.

Varied phenotype of homocystinuria: possible diagnostic error.

Indian J Ophthalmol. 2014 Jul;62(7):835. doi: 10.4103/0301-4738.138637.

本文引用的文献

Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.

J Biol Chem. 2010 Jan 8;285(2):1188-98. doi: 10.1074/jbc.M109.021246. Epub 2009 Nov 4.

Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population.

J AAPOS. 2001 Oct;5(5):311-5. doi: 10.1067/mpa.2001.118219.

Acute glaucoma, ectopia lentis and homocystinuria.

Am J Ophthalmol. 1966 Feb;61(2):252-5. doi: 10.1016/0002-9394(66)90278-9.

Lens fringe in homocystinuria.

Arch Ophthalmol. 1975 Apr;93(4):318. doi: 10.1001/archopht.1975.01010020328014.

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

Varied phenotypic presentations of homocystinuria in two siblings.

Indian J Ophthalmol. 2014 Jan;62(1):93-4. doi: 10.4103/0301-4738.126190.

Varied phenotype of homocystinuria: possible diagnostic error.

Indian J Ophthalmol. 2014 Jul;62(7):835. doi: 10.4103/0301-4738.138637.

Authors' reply: Comment to varied phenotype of Homocystinuria: possible diagnostic error.

Indian J Ophthalmol. 2014 Aug;62(8):897. doi: 10.4103/0301-4738.141074.

Homocystinuria and ectopia lentis.

J Am Optom Assoc. 1984 Apr;55(4):269-76.

The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective.

Int Ophthalmol. 2016 Feb;36(1):79-83. doi: 10.1007/s10792-015-0074-6. Epub 2015 May 17.

[Surgical treatment of dislocation of the crystalline lens].

J Fr Ophtalmol. 1985;8(12):823-31.

Ectopia lentis.

Surv Ophthalmol. 1982 Nov-Dec;27(3):143-60. doi: 10.1016/0039-6257(82)90069-8.

[Homocystinuria in Israel].

Harefuah. 1988 Nov 1;115(9):221-4.

Homocystinuria and Marfanoid appearance.

Bull Soc Belge Ophtalmol. 1980;191:29-37.

[Eye manifestations in homocystinuria].

Cesk Oftalmol. 1987 Jul;43(4):267-70.

引用本文的文献

Nontraumatic bilateral inferior ectopia lentis.

Oman J Ophthalmol. 2023 Feb 21;16(1):195-196. doi: 10.4103/ojo.ojo_278_2019. eCollection 2023 Jan-Apr.

The Genetics of Pneumothorax.

Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI.

Pharmacological Actions of Hydrogen Sulfide Donors on Sympathetic Neurotransmission in the Bovine Anterior Uvea, In Vitro.

Neurochem Res. 2016 May;41(5):1020-8. doi: 10.1007/s11064-015-1784-x. Epub 2015 Dec 23.

Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.

Iran J Child Neurol. 2015 Spring;9(2):53-7.

Authors' reply: Comment to varied phenotype of Homocystinuria: possible diagnostic error.

Indian J Ophthalmol. 2014 Aug;62(8):897. doi: 10.4103/0301-4738.141074.

Varied phenotype of homocystinuria: possible diagnostic error.

Indian J Ophthalmol. 2014 Jul;62(7):835. doi: 10.4103/0301-4738.138637.

本文引用的文献

Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.

J Biol Chem. 2010 Jan 8;285(2):1188-98. doi: 10.1074/jbc.M109.021246. Epub 2009 Nov 4.

Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population.

J AAPOS. 2001 Oct;5(5):311-5. doi: 10.1067/mpa.2001.118219.

Acute glaucoma, ectopia lentis and homocystinuria.

Am J Ophthalmol. 1966 Feb;61(2):252-5. doi: 10.1016/0002-9394(66)90278-9.

Lens fringe in homocystinuria.

Arch Ophthalmol. 1975 Apr;93(4):318. doi: 10.1001/archopht.1975.01010020328014.