P352: Unmasking the unexpected: Type 1 bile acid synthesis defect presenting as rickets

Genetics in Medicine Open 2026 Open access

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Authors: Ian Bell, Nancy Tiday, Deliana Rivas, Denease Francis, Maria Ethel Aguirre Flores
DOI: 10.1016/j.gimo.2026.103846
Cited by: 0

Fields of Study & Subjects

Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103846–103846
Publication date
1 January 2026
Language
EN