Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Bonafe Luisa; Kariminejad Ariana; Li Jia; Royer-Bertrand Beryl; Garcia Virginie; Mahdavi Shokouholsadat; Bozorgmehr Bita; Lachman Ralph L.; Mittaz-Crettol Laureane; Campos-Xavier Belinda; Nampoothiri Sheela; Unger Sheila; Rivolta Carlo; Levade Thierry; Superti-Furga Andrea

首页> 外文期刊>Arthritis & rheumatology. >Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

【24h】

Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

机译：成人外周骨溶解与ASAH1（酸性神经酰胺酶）突变相关：法伯病的一种新表现。

获取原文

获取原文并翻译 | 示例

获取外文期刊封面封底 >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Objective. To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis.

机译：目的。为来自一个家族的3名成年患者出现周围骨溶解的诊断并提供咨询和治疗。

著录项

来源
《Arthritis & rheumatology.》 |2016年第9期|共5页
作者
Bonafe Luisa; Kariminejad Ariana; Li Jia; Royer-Bertrand Beryl; Garcia Virginie; Mahdavi Shokouholsadat; Bozorgmehr Bita; Lachman Ralph L.; Mittaz-Crettol Laureane; Campos-Xavier Belinda; Nampoothiri Sheela; Unger Sheila; Rivolta Carlo; Levade Thierry; Superti-Furga Andrea;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类全身性疾病;
关键词

相似文献

外文文献
中文文献
专利

1. Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease [J] . Bonafe Luisa, Kariminejad Ariana, Li Jia, Arthritis & rheumatology. . 2016,第9期

机译：成人外周骨溶解与ASAH1（酸性神经酰胺酶）突变相关：法伯病的一种新表现。
2. Atypical Presentation of Infantile-Onset Farber Disease with Novel ASAH1 Mutations [J] . Kim Soo Yeon, Choi Sun Ah, Lee Sangmoon, American journal of medical genetics, Part A . 2016,第11期

机译：新型ASAH1突变引起的婴幼儿Farber病的非典型表现
3. Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system [J] . ChedrawiA.K., Al-HassnanZ.N., Al-MuhaizeaM., Brain & Development . 2012,第5期

机译：在Farber病患者中发现新的V97G ASAH1突变：该病的独特出现，具有中等严重程度，并且明显参与了中枢和周围神经系统的早期
4. Selection and mutation effects on equilibrium and stability of X-linked recessive diseases [C] . Francesca Verrilli, Hamed Kebriaei, Luigi Glielmo, IEEE Conference on Decision and Control . 2015

机译：选择和突变对X连锁隐性疾病平衡和稳定性的影响
5. Glycyl-tRNA synthetase mutations cause Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V: A potentially novel disease mechanism for human peripheral neuropathies. [D] . Antonellis, Anthony. 2005

机译：糖基-tRNA合成酶突变导致2D型Charcot-Marie-Tooth病和V型远端脊髓性肌萎缩症：人类周围神经病的潜在新型疾病机制。
6. Acid ceramidase deficiency: Farber disease and SMA-PME [O] . Fabian P. S. Yu, Samuel Amintas, Thierry Levade, 2018

机译：酸性神经酰胺酶缺乏症：Farber病和SMA-PME
7. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB [O] . Wolach, Baruch, Scharf, Yitshak, Gavrieli, Ronit, 2005

机译：X连锁慢性肉芽肿病的异常晚期呈现在成年女性中，伴有体细胞镶嵌的CYBB新突变

Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

摘要

著录项

相似文献

相关主题

期刊订阅