The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A
The article reflects the importance of timely diagnosis sarcomeric and non sarcomeric hypertrophic cardiomyopathy (HCM). The results of the phenotypic and genotypic screenings aimed at identifying HCM phenocopies and, in particular Fabry disease, in the structure of left ventricular hypertrophy of u...
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Academician I.P. Pavlov First St. Petersburg State Medical University
2015-12-01
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| Series: | Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова |
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| Online Access: | https://www.sci-notes.ru/jour/article/view/156 |
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| author | A. A. Poliakova E. N. Semernin A. Ya. Gudkova |
| author_facet | A. A. Poliakova E. N. Semernin A. Ya. Gudkova |
| author_sort | A. A. Poliakova |
| collection | DOAJ |
| description | The article reflects the importance of timely diagnosis sarcomeric and non sarcomeric hypertrophic cardiomyopathy (HCM). The results of the phenotypic and genotypic screenings aimed at identifying HCM phenocopies and, in particular Fabry disease, in the structure of left ventricular hypertrophy of unknown origin in patients of the North-West region of Russia. We analyzed the influence of polymorphisms in the intronic and promoter regions of the GLA gene on clinical course and the presence of extracardiac manifestations. |
| format | Article |
| id | doaj-art-f245ba714b444625b0cc16e0e93e2a55 |
| institution | DOAJ |
| issn | 1607-4181 2541-8807 |
| language | Russian |
| publishDate | 2015-12-01 |
| publisher | Academician I.P. Pavlov First St. Petersburg State Medical University |
| record_format | Article |
| series | Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова |
| spelling | doaj-art-f245ba714b444625b0cc16e0e93e2a552025-08-20T03:00:36ZrusAcademician I.P. Pavlov First St. Petersburg State Medical UniversityУчёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова1607-41812541-88072015-12-01224616510.24884/1607-4181-2015-22-4-61-65152The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase AA. A. Poliakova0E. N. Semernin1A. Ya. Gudkova2Первый Санкт-Петербургский государственный университет имени академика И.П. Павлова; Северо-Западный федеральный медицинский исследовательский центр им. В.А. АлмазоваПервый Санкт-Петербургский государственный университет имени академика И.П. Павлова; Северо-Западный федеральный медицинский исследовательский центр им. В.А. АлмазоваПервый Санкт-Петербургский государственный университет имени академика И.П. Павлова; Северо-Западный федеральный медицинский исследовательский центр им. В.А. АлмазоваThe article reflects the importance of timely diagnosis sarcomeric and non sarcomeric hypertrophic cardiomyopathy (HCM). The results of the phenotypic and genotypic screenings aimed at identifying HCM phenocopies and, in particular Fabry disease, in the structure of left ventricular hypertrophy of unknown origin in patients of the North-West region of Russia. We analyzed the influence of polymorphisms in the intronic and promoter regions of the GLA gene on clinical course and the presence of extracardiac manifestations.https://www.sci-notes.ru/jour/article/view/156гипертрофический фенотипсарко-мерная гкмпнесаркомерная гкмпболезнь фабриполиморфизмыhypertrophic phenotypesarcomeric hypertrophic cardiomyopathynon sarcomeric hypertrophic cardiomyopathyfabry diseasepolymorphisms |
| spellingShingle | A. A. Poliakova E. N. Semernin A. Ya. Gudkova The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова гипертрофический фенотип сарко-мерная гкмп несаркомерная гкмп болезнь фабри полиморфизмы hypertrophic phenotype sarcomeric hypertrophic cardiomyopathy non sarcomeric hypertrophic cardiomyopathy fabry disease polymorphisms |
| title | The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A |
| title_full | The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A |
| title_fullStr | The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A |
| title_full_unstemmed | The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A |
| title_short | The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A |
| title_sort | clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha galactosidase a |
| topic | гипертрофический фенотип сарко-мерная гкмп несаркомерная гкмп болезнь фабри полиморфизмы hypertrophic phenotype sarcomeric hypertrophic cardiomyopathy non sarcomeric hypertrophic cardiomyopathy fabry disease polymorphisms |
| url | https://www.sci-notes.ru/jour/article/view/156 |
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