Homocystinuria in Children

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...

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Bibliographic Details
Main Authors:	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
Format:	Article
Language:	English
Published:	"Paediatrician" Publishers LLC 2018-01-01
Series:	Вопросы современной педиатрии
Subjects:	hemostasis homocystin homocysteine homocystinuria magnetic resonance imaging methionine marfan-like syndrome pyridoxine lens subluxation amino acid mixtures without methionine cystathionine -synthase cysteine
Online Access:	https://vsp.spr-journal.ru/jour/article/view/1832
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Homocystinuria in Children

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