Establishment and Validation of a Clinical Severity Scoring System for Succinic Semialdehyde Dehydrogenase Deficiency.
Journal of inherited metabolic disease(2023)
Abstract
The SSADHD CSS is validated using objective measures and offers a reliable condition-specific instrument universally applicable in clinical settings. This severity score may be utilized for family and patient counseling, genotype-phenotype correlations, biomarker development, clinical trials, and objective descriptions of the natural history of SSADHD. This article is protected by copyright. All rights reserved.
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Key words
clinical severity scoring system,deficiency
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