Difficult diagnosis. Niemann - Pick disease, type C

Autor:	L. S. Namazova-baranova, A. K. Gevorkyan, N. D. Vashakmadze, L. S. Vysotskaya, A. M. Mamedyarov, T. V. Margieva
Jazyk:	ruština
Rok vydání:	2014
Předmět:	лизосомные болезни болезнь ниманна -пика тип с диагностика клиническое течение лечение дети lysosomal storage diseases niemann - pick type c diagnosis clinical course treatment children Medicine
Zdroj:	Медицинский совет, Vol 0, Iss 1, Pp 73-76 (2014)
Druh dokumentu:	article
ISSN:	2079-701X 2658-5790
DOI:	10.21518/2079-701X-2014-1-73-76
Popis:	Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the child's life and slow the progression of the disease. The article focuses on a rare genetic lysosomal storage disease which is inherited in autosomal recessive fashion - Niemann - Pick disease, type C. Types of clinical course and diagnostic methods are described in detail.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/ea975ceb0ee746939623f7488ebc3181 Zobrazit plný text záznamu View record in DOAJ