دورية أكاديمية
Transthyretin-Related Familial Amyloid Polyneuropathy: In the Light of New Developments
| العنوان: | Transthyretin-Related Familial Amyloid Polyneuropathy: In the Light of New Developments |
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| المؤلفون: | Arman Çakar, Hacer Durmuş Tekçe, Feza Deymeer, Piraye Oflazer Serdaroğlu, Yeşim G Parman |
| المصدر: | Türk Nöroloji Dergisi, Vol 23, Iss 3, Pp 105-111 (2017) |
| بيانات النشر: | Galenos Yayinevi, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Medicine LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | Amyloidosis, transthyretin, polyneuropathy, genetics, neuropathy, Medicine, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is caused by gain-of-toxic-function of TTR, which dissociates from its native tetramer form to a monomer form and aggregates in several tissues and organs. Mutations in the TTR gene lead to this amyloidogenic transformation and cause autosomal dominant disease. TTR-FAP typically causes sensorimotor FAP accompanied by autonomic involvement, but considerable phenotypic diversity is noted between different mutation types. In the event of clinical suspicion, TTR gene sequencing and pathologic confirmation are the recommended paths to follow. Significant improvement has been achieved in treating the disease over the past 20 years, starting with liver transplantation, followed by tetramer stabilizers and TTR-lowering therapies. Although there are still some uncertainties in diagnosing and treating TTR-FAP, recent advances are promising, especially in the field of treatment |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1301-062X 1309-2545 |
| العلاقة: | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-03206Test; https://doaj.org/toc/1301-062XTest; https://doaj.org/toc/1309-2545Test |
| DOI: | 10.4274/tnd.03206 |
| الوصول الحر: | https://doaj.org/article/d398437b068b4814b5b127d9d7efaa90Test |
| رقم الانضمام: | edsdoj.398437b068b4814b5b127d9d7efaa90 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 1301062X 13092545 |
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| DOI: | 10.4274/tnd.03206 |