Homocystinuria in Children

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

Internet

https://vsp.spr-journal.ru/jour/article/view/1832

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