Prevention of phenylketonuria as an example of the system of preventive measures in orphan diseases

In the article on the example of phenylketonuria, modern aspects of the prevention of rare diseases are considered. Phenylketonuria is a hereditary disease, in the absence of treatment characterized by progressive mental retardation, epilepsy, severe dermatitis, but with early diagnosis and diet the...

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Bibliographic Details
Main Authors: S. Sh. Yafarova, R. F. Shavaliev, S. Ja. Volgina
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2017-11-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/562