遗传性类脂质沉积症（鲁伊特 - 庞彭 - 怀尔斯型，弥漫性躯体血管角质瘤，法布里病）的遗传学方面 - Suppr

Suppr

超能文献

GENETIC ASPECTS OF THE THESAURISMOSIS LIPOIDICA HEREDITARIA RUITER-POMPEN-WYERS (ANGIOKERATOMA CORPORIS DIFFUSUM FABRY).

作者信息

DE GROOT W P

出版信息

Dermatologica. 1964;129:281-2. doi: 10.1159/000254635.

DOI:10.1159/000254635

PMID:14241684

Abstract

摘要

相似文献

GENETIC ASPECTS OF THE THESAURISMOSIS LIPOIDICA HEREDITARIA RUITER-POMPEN-WYERS (ANGIOKERATOMA CORPORIS DIFFUSUM FABRY).

Dermatologica. 1964;129:281-2. doi: 10.1159/000254635.

[Ruiter-Pompen-Wyers hereditary lipoid thesaurismosis (Fabry's angiokeratoma corporis diffusum)].

Ned Tijdschr Geneeskd. 1963 Apr 13;107:687-93.

[Enterocolitis as a symptom of angiokeratoma corporis diffusum (Ruiter-Pompen-Wyers-Kühnau thesaurismosis)].

Ned Tijdschr Geneeskd. 1958 Sep 27;102(39):1941-3.

[Electron microscopic study of the skin in angiokeratoma corporis diffusum. (Ruiter-Pompen-Weyers thesaurismosis lipoidica; Sweeley-Klionsky sphingolipidosis, etc.)].

Arch Klin Exp Dermatol. 1966;226(4):453-63.

[Angiokeratoma corporis diffusum (Fabry); Ruiter-Pompen cardio-vaso-renal syndrome].

Dermatologica. 1957 Oct;115(4):572-8.

ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY). HISTOCHEMICAL AND ELECTRON MICROSCOPIC STUDIES OF THE SKIN.

J Invest Dermatol. 1965 Feb;44:119-28.

The ocular manifestations of hereditary dystopic lipidosis (angiokeratoma corporis diffusum universale).

Arch Ophthalmol. 1963 Jun;69:708-16. doi: 10.1001/archopht.1963.00960040714005.

[Angiokeratoma corporis diffusum universalis with cardiovasorenal symptoms as a new form of thesaurismosis].

Helv Med Acta. 1952 Oct;19(4-5):388-96.

[Angiokeratoma corporis diffusum, a cutaneous manifestation of a hitherto unknown disorder of phosphatide metabolism (phosphatide thesaurismosis].

Ned Tijdschr Geneeskd. 1951 Jan 20;95(3):184-91.

ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S SYNDROME).

Australas Ann Med. 1964 Nov;13:339-48. doi: 10.1111/imj.1964.13.4.339.

引用本文的文献

Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study.

Basic Clin Androl. 2019 May 15;29:7. doi: 10.1186/s12610-019-0088-4. eCollection 2019.

The Impact of Fabry Disease on Reproductive Fitness.

JIMD Rep. 2017;37:85-97. doi: 10.1007/8904_2017_17. Epub 2017 Mar 22.

Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy.

Virchows Arch. 2008 Oct;453(4):329-38. doi: 10.1007/s00428-008-0653-2. Epub 2008 Sep 4.

Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease.

Virchows Arch. 2008 Sep;453(3):291-300. doi: 10.1007/s00428-008-0651-4. Epub 2008 Sep 2.

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

J Inherit Metab Dis. 2007 Feb;30(1):68-78. doi: 10.1007/s10545-006-0484-8. Epub 2007 Jan 5.

[Electron microscopic study of the skin in angiokeratoma corporis diffusum. (Ruiter-Pompen-Weyers thesaurismosis lipoidica; Sweeley-Klionsky sphingolipidosis, etc.)].

Arch Klin Exp Dermatol. 1966;226(4):453-63.

[Lipoid chemical studies on angiokeratoma corporis diffusum (Fabry's syndrome)].

Klin Wochenschr. 1969 Sep 1;47(17):916-9. doi: 10.1007/BF01486269.

[Electrocardiographic examination in patients with skin diseases].

Arch Kreislaufforsch. 1969 Oct;60(1):33-114.

[Angiokeratoma corporis diffusum (Fabry)--Lipoid thesaurismosis].

Arch Dermatol Forsch. 1971;240(4):394-403. doi: 10.1007/BF00584593.

[Peripheral neurological disorders in Fabry's disease (angiokeratoma corporis diffusum universale). Clinical and electron microscopic findings in a case].

Klin Wochenschr. 1968 Jun 15;46(12):666-71. doi: 10.1007/BF01727738.

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