Current aspects of the diagnosis, treatment, and follow-up of children with type I galactosemia
Abstract
The paper considers the topical problems arising in children with the most severe form of type I galactosemia. It describes the specific features of neonatal screening for galactosemia. Diagnostic criteria for the classic, clinical, and biochemical variants of galactosemia are presented. The basic characteristics of the clinical picture and late sequels of the disease are identified. Particular emphasis is placed on management tactics for ill children via dietary correction, complication treatments, preventive measures, and a follow-up.
About the Authors
S. Ya. Volgina
Kazan State Medical University
Russian Federation
Russian Federation
A. Yu. Asanov
I.M. Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
A. A. Sokolov
I.I. MechnikovNorth-Western State Medical University, Saint-Petersburg
Russian Federation
Russian Federation
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For citations:
Volgina S.Ya., Asanov A.Yu., Sokolov A.A. Current aspects of the diagnosis, treatment, and follow-up of children with type I galactosemia. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(5):179-187. (In Russ.)
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