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Description of a clinical case of Krabbe disease.
https://doi.org/10.25557/2073-7998.2025.12.116-118
Abstract
This article presents a description of a clinical case of a patient with Krabbe disease. This diagnosis was confirmed by determining the level of enzymatic activity of galactocerebrosidase and molecular genetic testing – searching for mutations in the GALC gene.
About the Authors
N. A. Gladkova
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Россия
Россия
A. O. Vechkasova
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Россия
Россия
D. M. Talova
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Россия
Россия
References
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Review
For citations:
Gladkova N.A., Vechkasova A.O., Talova D.M. Description of a clinical case of Krabbe disease. Medical Genetics. 2025;24(12):116-118. (In Russ.) https://doi.org/10.25557/2073-7998.2025.12.116-118
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