Glycine encephalopathy in newborns and young children: global management standards and a clinical case

• Main Authors: M.A. Gonchar (Author), O.L. Logvinova (Author), E.M. Pushkar (Author), O.P. Pomazunovskaya (Author), D.A. Ivakhnenko (Author)
• Format: Book
• Published: Zaslavsky O.Yu., 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The article shows a three-level approach to the diagnosis of glycine encephalopathy by the example of a clinical case. The article considers the modern etiology of the disease, based on molecular genetic testing of biallelic genes by DNA sequencing as well as the modern classification and peculiarit...