دورية أكاديمية
Consensus position statement for the diagnosis and treatment of lysosomal storage diseases with neurological manifestations
| العنوان: | Consensus position statement for the diagnosis and treatment of lysosomal storage diseases with neurological manifestations |
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| المؤلفون: | Ivan Milanov, Ivailo Tournev, Veneta Bozhinova |
| المصدر: | Българска неврология, Vol 24, Iss S4, Pp 1-18 (2023) |
| بيانات النشر: | Bulgarian Society of Neurology, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | lysosomal storage diseases, consensus, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | Lysosomal storage diseases involve about 50 rare genetic metabolic diseases engaging various mutations/pathological variants that cause enzyme deficiency and lysosomal dysfunction due to accumulation of certain substrates in them: lipids, glycoproteins, and mucopolysaccharides. These diseases induce multiple organ involvement and have a progressive course. They are mainly inherited in an autosomal recessive (AR) manner, e.g. Niemann-Pick disease type C, and, in rare cases, in an X-recessive (XR) (Fabry disease and Hunter disease (MPS II)) or an autosomal dominant (AD) manner (neuronal ceroid lipofuscinosis type 4 (NCL4)). Disease incidence is about 1/7,700 births. Disease prevalence is about 1:100,000 but occasionally reaches 1:5,000–1:10,000. The onset is usually in childhood and infantile, late infantile, pediatric, adolescent, and adult disease forms have been characterized. Clinical syndromes in the presence of neurological manifestations depend on the site of substrate accumulation and most often impair the central nervous system as well as, less commonly, the peripheral nervous system, sometimes—the muscles, while multiple organ involvement (heart, vessels, kidneys, liver, spleen, etc.) is also possible. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | Bulgarian English |
| تدمد: | 1311-8641 2815-2522 |
| العلاقة: | https://www.nevrologiabg.com/journal/index.php/neurology/article/view/131Test; https://doaj.org/toc/1311-8641Test; https://doaj.org/toc/2815-2522Test |
| الوصول الحر: | https://doaj.org/article/81f9f136325e47d7b2a41925f1449cabTest |
| رقم الانضمام: | edsdoj.81f9f136325e47d7b2a41925f1449cab |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 13118641 28152522 |
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