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Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports.

作者信息

POMPEN A W M, RUITER M, WYERS H J G

出版信息

Acta Med Scand. 1947 Jun 30;128(3):234-55. doi: 10.1111/j.0954-6820.1947.tb06596.x.

DOI:10.1111/j.0954-6820.1947.tb06596.x
PMID:18897399
Abstract
摘要

相似文献

1
Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports.弥漫性（全身性）皮肤血管角质瘤（法布里病），作为一种不明内部疾病的体征；两份尸检报告
Acta Med Scand. 1947 Jun 30;128(3):234-55. doi: 10.1111/j.0954-6820.1947.tb06596.x.
2
Angiokeratoma corporis diffusum universale (Fabry).
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[Angiokeratoma corporis diffusum (universale) Fabry as a symptom of disturbance of phosphatidosis].
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4
Angiokeratoma corporis diffusum universale (Fabry); first American report of a rare disorder.泛发性全身性血管角质瘤（法布里病）；一种罕见疾病的首例美国报告
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7
ANGIOKERATOMA CORPORIS DIFFUSUM UNIVERSALE: FABRY'S DISEASE; CASE REPORT AND REVIEW OF THE LITERATURE.
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8
[Angiokeratoma corporis diffusum universale (Fabry) with cardio-vaso-renal symptom complex as general disease].
Arztl Wochensch. 1951 Jan 19;6(3):49-55.
9
The ocular manifestations of hereditary dystopic lipidosis (angiokeratoma corporis diffusum universale).
Arch Ophthalmol. 1963 Jun;69:708-16. doi: 10.1001/archopht.1963.00960040714005.
10
A MORPHOLOGICAL STUDY OF THE RENAL LESION IN ANGIOKERATOMA CORPORIS DIFFUSUM UNIVERSALE (FABRY'S DISEASE).
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Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.人源法布里病体外模型：解析疾病机制和治疗方法的新途径。
J Transl Med. 2024 Oct 24;22(1):965. doi: 10.1186/s12967-024-05756-w.
2
Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.局灶节段性肾小球硬化症遗传病因的眼部表现
Pediatr Nephrol. 2024 Mar;39(3):655-679. doi: 10.1007/s00467-023-06073-y. Epub 2023 Aug 14.
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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
丹麦法布里病中心的系统性级联筛查：20 年的国家单中心经验。
PLoS One. 2022 Nov 16;17(11):e0277767. doi: 10.1371/journal.pone.0277767. eCollection 2022.
4
Fabry Disease With Concomitant Lewy Body Disease.伴有路易体病的法布里病。
J Neuropathol Exp Neurol. 2020 Apr 1;79(4):378-392. doi: 10.1093/jnen/nlz139.
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Value of the CHADS-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation.CHADS-VASc 评分和 Fabry 特异性评分在无房颤的 Fabry 病患者中预测新发或复发性卒中和 TIA 的价值。
Clin Res Cardiol. 2018 Dec;107(12):1111-1121. doi: 10.1007/s00392-018-1285-4. Epub 2018 May 24.
6
Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease.年轻 Fabry 病患者的足细胞渐进性损伤和Globotriaosylceramide（GL-3）蓄积。
Kidney Int. 2011 Mar;79(6):663-670. doi: 10.1038/ki.2010.484. Epub 2010 Dec 15.
7
Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy.早期肾病的杂合子法布里病女性患者的肾活检结果。
Virchows Arch. 2008 Oct;453(4):329-38. doi: 10.1007/s00428-008-0653-2. Epub 2008 Sep 4.
8
Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease.经典型安德森-法布里病患者的脾肿大、脾功能亢进及外周血细胞减少
Virchows Arch. 2008 Sep;453(3):291-300. doi: 10.1007/s00428-008-0651-4. Epub 2008 Sep 2.
9
[Angiokeratoma corporis diffusum (Fabry) with cerebral manifestations].
Dtsch Z Nervenheilkd. 1962;183:351-62.
10
[On corneal dystrophy in genodermatoses with special reference to palmar and plantar keratosis. (Clinical, genetic and histological studies)].[关于遗传性皮肤病中的角膜营养不良，特别提及掌跖角化病。（临床、遗传学和组织学研究）]
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