Homocystinuria in Children

• Hlavní autoři: Alexander A. Baranov (Autor), Leyla S. Namazova-Baranova (Autor), Tatyana E. Borovik (Autor), Tatyana V. Bushueva (Autor), Oksana V. Globa (Autor), Natalya V. Zhurkova (Autor), Elena A. Vishneva (Autor), Ekaterina Yu. Zakharova (Autor), Natalya G. Zvonkova (Autor), Ljudmila M. Kuzenkova (Autor), Sergey I. Kutsev (Autor), Svetlana V. Mikhaylova (Autor), Ekaterina A. Nikolaeva (Autor), Petr V. Novikov (Autor), Alexandr A. Pushkov (Autor), Kirill V. Savostyanov (Autor), Elena Yu. Voskoboeva (Autor), Liliia R. Selimzianova (Autor), Alla N. Semyachkina (Autor)
• Médium: Kniha
• Vydáno: "Paediatrician" Publishers LLC, 2018-01-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

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 mode...