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Article

Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia.

Journal of inherited metabolic disease - 1 May 2025

Smith Nicole H, Garrett Olivia S, Hendrickson Emma, Druss Jared J, Fridovich-Keil Judith L

Abstract excerpt

Long-term complications are common among patients with classic galactosemia (CG) and show both reduced penetrance and variable expressivity. Overall prevalence rates for complications in cognitive, motor, and speech/voice/language outcomes among US and European cohorts are known. However, age at presentation, whether these complications cluster, and what factors might associate with penetrance remain unknown....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40174935
DOI: 10.1002/jimd.70020
PMCID: PMC11970356

Genes

GALT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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