دورية أكاديمية
أعرض في EDS

Management of X-linked adrenoleukodystrophy in Morocco: actual situation

التفاصيل البيبلوغرافية
العنوان: Management of X-linked adrenoleukodystrophy in Morocco: actual situation
المؤلفون: F. Z. Madani Benjelloun, Y. Kriouile, D. Cheillan, H. Daoud-Tetouani, L. Chabraoui
المصدر: BMC Research Notes, Vol 10, Iss 1, Pp 1-6 (2017)
بيانات النشر: BMC, 2017.
سنة النشر: 2017
المجموعة: LCC:Medicine
LCC:Biology (General)
LCC:Science (General)
مصطلحات موضوعية: X-ALD, X-linked Adrenoleukodystrophy, Neurodegenerative disorder, Rare disease, Mutation, ABCD1 gene, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390
الوصف: Abstract Objectives X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, and follow-up of this disease in Morocco. Results We developed three protocols of X-linked Adrenoleukodystrophy management: general protocol, asymptomatic protocol, and heterozygous protocol. Over a period of 5 years, we recruited eight families with 16 patients. Clinically, the presentation is primary adrenal insufficiency and behavioral changes. All patients had elevated levels of very long fatty acids. This is the first study of X-linked adrenoleukodystrophy in Morocco. It shows the importance of this metabolic disease and broadens perspectives in terms of its diagnosis and its treatment.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1756-0500
Relation: http://link.springer.com/article/10.1186/s13104-017-2902-4; https://doaj.org/toc/1756-0500
DOI: 10.1186/s13104-017-2902-4
URL الوصول: https://doaj.org/article/28c37cc4abdd4b53a92238c427d472f7
رقم الأكسشن: edsdoj.28c37cc4abdd4b53a92238c427d472f7
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:17560500
DOI:10.1186/s13104-017-2902-4