Problems of early diagnosis of hereditary neurological diseases

Hereditary neurological diseases represent a substantial part of human monogenic disorders. Most of them are progressive, disabling,and lacking disease-modifying therapy. Early diagnosis of severe genetic neurological conditions is essentialfor primaryand secondary prevention, genetic counseling and...

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Detalhes bibliográficos
Main Authors: S. N. Illarioshkin, Yu. A. Seliverstov, S. A. Klyushnikov
Formato: Artigo
Idioma:Russo
Publicado em: Ltd. “The National Academy of Pediatric Science and Innovation” 2021-09-01
Colecção:Rossijskij Vestnik Perinatologii i Pediatrii
Assuntos:
children
hereditary neurologicaldiseases
early diagnosis
prenatal diagnostics
neonatal screening
nosomodifying therapy
predictive testing
ethical issues
Acesso em linha:https://www.ped-perinatology.ru/jour/article/view/1438
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