Difficult diagnosis. Niemann - Pick disease, type C
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 t...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Remedium Group LLC
2014-12-01
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| Series: | Медицинский совет |
| Subjects: | |
| Online Access: | https://www.med-sovet.pro/jour/article/view/1226 |
| _version_ | 1797841597808771072 |
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| author | L. S. Namazova-baranova A. K. Gevorkyan N. D. Vashakmadze L. S. Vysotskaya A. M. Mamedyarov T. V. Margieva |
| author_facet | L. S. Namazova-baranova A. K. Gevorkyan N. D. Vashakmadze L. S. Vysotskaya A. M. Mamedyarov T. V. Margieva |
| author_sort | L. S. Namazova-baranova |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-09T16:33:52Z |
| format | Article |
| id | doaj.art-ea975ceb0ee746939623f7488ebc3181 |
| institution | Directory Open Access Journal |
| issn | 2079-701X 2658-5790 |
| language | Russian |
| last_indexed | 2024-04-09T16:33:52Z |
| publishDate | 2014-12-01 |
| publisher | Remedium Group LLC |
| record_format | Article |
| series | Медицинский совет |
| spelling | doaj.art-ea975ceb0ee746939623f7488ebc31812023-04-23T06:57:00ZrusRemedium Group LLCМедицинский совет2079-701X2658-57902014-12-0101737610.21518/2079-701X-2014-1-73-761226Difficult diagnosis. Niemann - Pick disease, type CL. S. Namazova-baranova0A. K. Gevorkyan1N. D. Vashakmadze2L. S. Vysotskaya3A. M. Mamedyarov4T. V. Margieva5Scientific Center of Children's Health RAMS, Moscow ; First Moscow State Medical University named after I.M.Sechenov; Pirogov Russian National Research Medical University, MoscowScientific Center of Children's Health RAMS, Moscow ; First Moscow State Medical University named after I.M.SechenovScientific Center of Children's Health RAMS, MoscowScientific Center of Children's Health RAMS, MoscowScientific Center of Children's Health RAMS, MoscowScientific Center of Children's Health RAMS, Moscow ; First Moscow State Medical University named after I.M.SechenovModern 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.https://www.med-sovet.pro/jour/article/view/1226лизосомные болезниболезнь ниманна -пикатип сдиагностикаклиническое течениелечениедетиlysosomal storage diseasesniemann - picktype cdiagnosisclinical coursetreatmentchildrenlysosomal storage diseasesniemann - picktype cdiagnosisclinical coursetreatmentchildren |
| spellingShingle | L. S. Namazova-baranova A. K. Gevorkyan N. D. Vashakmadze L. S. Vysotskaya A. M. Mamedyarov T. V. Margieva Difficult diagnosis. Niemann - Pick disease, type C Медицинский совет лизосомные болезни болезнь ниманна -пика тип с диагностика клиническое течение лечение дети lysosomal storage diseases niemann - pick type c diagnosis clinical course treatment children lysosomal storage diseases niemann - pick type c diagnosis clinical course treatment children |
| title | Difficult diagnosis. Niemann - Pick disease, type C |
| title_full | Difficult diagnosis. Niemann - Pick disease, type C |
| title_fullStr | Difficult diagnosis. Niemann - Pick disease, type C |
| title_full_unstemmed | Difficult diagnosis. Niemann - Pick disease, type C |
| title_short | Difficult diagnosis. Niemann - Pick disease, type C |
| title_sort | difficult diagnosis niemann pick disease type c |
| topic | лизосомные болезни болезнь ниманна -пика тип с диагностика клиническое течение лечение дети lysosomal storage diseases niemann - pick type c diagnosis clinical course treatment children lysosomal storage diseases niemann - pick type c diagnosis clinical course treatment children |
| url | https://www.med-sovet.pro/jour/article/view/1226 |
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