Homocystinuria in Children
| Autor: | Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Oksana V. Globa, Natalya V. Zhurkova, Elena A. Vishneva, Ekaterina Yu. Zakharova, Natalya G. Zvonkova, Ljudmila M. Kuzenkova, Sergey I. Kutsev, Svetlana V. Mikhaylova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexandr A. Pushkov, Kirill V. Savostyanov, Elena Yu. Voskoboeva, Liliia R. Selimzianova, Alla N. Semyachkina |
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| Jazyk: | English<br />Russian |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Вопросы современной педиатрии, Vol 16, Iss 6, Pp 457-467 (2018) |
| Druh dokumentu: | article |
| ISSN: | 1682-5527 1682-5535 |
| DOI: | 10.15690/vsp.v16i6.1818 |
| Popis: | Homocystinuria is a genetically heterogeneous hereditary disease from the group of aminoacidopathies caused by a metabolic disorder of sulphur-containing amino acids, primarily methionine. The article presents the etiopathogenetic, diagnostic and therapeutic aspects of this disease and covers modern opportunities of biochemical and molecular diagnostics. The approach to dietary and pharmacological correction of metabolic disorders in homocystinuria and the general strategy of patients’ management are described in detail. Important information is given for physicians of various disciplines and parents of patients. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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