弹性假黄瘤。一种诊断不足的具有多种表现的基因异质性疾病。 - Suppr

Suppr

超能文献

Pseudoxanthoma elasticum. An underdiagnosed genetically heterogeneous disorder with protean manifestations.

作者信息

Altman L K, Fialkow P J, Parker F, Sagebiel R W

出版信息

Arch Intern Med. 1974 Dec;134(6):1048-54. doi: 10.1001/archinte.134.6.1048.

DOI:10.1001/archinte.134.6.1048

PMID:4433185

Abstract

摘要

相似文献

Pseudoxanthoma elasticum. An underdiagnosed genetically heterogeneous disorder with protean manifestations.弹性假黄瘤。一种诊断不足的具有多种表现的基因异质性疾病。

Arch Intern Med. 1974 Dec;134(6):1048-54. doi: 10.1001/archinte.134.6.1048.

Juvenile pseudoxanthoma elasticum: recognition and management.青少年弹性假黄瘤：识别与管理

Pediatr Dermatol. 1993 Mar;10(1):19-25. doi: 10.1111/j.1525-1470.1993.tb00005.x.

Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).在患有隐性弹性假黄瘤（PXE）的家族中鉴定杂合子携带者。

Mod Pathol. 1999 Dec;12(12):1112-23.

Pseudoxanthoma elasticum.弹性假黄瘤

Dermatol Online J. 2001 Dec;7(2):16.

Pseudoxanthoma elasticum.弹性假黄瘤

Postgrad Med J. 1970 Feb;46(532):97-108. doi: 10.1136/pgmj.46.532.97.

Two types of autosomal recessive pseudoxanthoma elasticum.两种常染色体隐性弹性假黄瘤。

Arch Dermatol. 1974 Aug;110(2):209-12.

Heterogeneity of clinical features of pseudoxanthoma elasticum: analysis of thirteen cases in Oita Prefecture from a population of 1,240,000.弹性假黄瘤临床特征的异质性：对大分县124万人口中13例病例的分析。

J Dermatol. 1991 Apr;18(4):211-7. doi: 10.1111/j.1346-8138.1991.tb03070.x.

[Pseudoxanthoma elasticum].

Ann Dermatol Venereol. 1990;117(2):133-7.

Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions.在无特征性皮肤损害的患者中通过瘢痕活检诊断弹性假黄瘤。

N Engl J Med. 1987 Aug 6;317(6):347-50. doi: 10.1056/NEJM198708063170604.

Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring.弹性假黄瘤：患病后代父母中有限表型表达的意义。

J Am Acad Dermatol. 2001 Mar;44(3):534-7. doi: 10.1067/mjd.2001.112401.

引用本文的文献

Comprehensive review of angioid streaks.血管样条纹的全面综述。

Indian J Ophthalmol. 2025 Jan 1;73(Suppl 1):S47-S54. doi: 10.4103/IJO.IJO_812_24. Epub 2024 Sep 10.

"Pseudo" Nomenclature in Dermatology: What's in a Name?皮肤科中的“假性”命名法：名称中有什么？

Indian J Dermatol. 2013 Sep;58(5):369-76. doi: 10.4103/0019-5154.117305.

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.ABCC6基因中一个复发性16.5 kb Alu介导的缺失突变与单碱基对替换的复合杂合性导致弹性假黄瘤。

Am J Hum Genet. 2001 Mar;68(3):642-52. doi: 10.1086/318807. Epub 2001 Feb 9.

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.弹性假黄瘤：编码跨膜ATP结合盒（ABC）转运蛋白的MRP6基因突变。

Proc Natl Acad Sci U S A. 2000 May 23;97(11):6001-6. doi: 10.1073/pnas.100041297.

Pentoxifylline for ischemic pain in pseudoxanthoma elasticum.己酮可可碱治疗弹性假黄瘤的缺血性疼痛。

West J Med. 1993 Dec;159(6):689-90.

Effect of selective enzymatic digestions on skin biopsies from pseudoxanthoma elasticum: an ultrastructural study.选择性酶消化对弹性假黄瘤皮肤活检组织的影响：一项超微结构研究。

Arch Dermatol Res. 1986;278(5):386-92. doi: 10.1007/BF00418168.

Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk.通过对有患病风险家庭的皮肤弹性和胶原组织进行特定超微结构改变，对显性弹性假黄瘤进行早期临床前诊断。

Hum Genet. 1991 Oct;87(6):693-700. doi: 10.1007/BF00201728.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验