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Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report
Abr 27, 2026
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Orphanet Journal of Rare Diseases
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The disease burden and health-related quality of life in Chinese children with genetic cholestatic liver diseases: a cross-sectional study of progressive familial intrahepatic cholestasis and Alagille syndrome
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