Last Updated: 09/26/2026
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Found 3 publications
Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes.
Journal: Neurology
Published: March 14, 2024
An unusually mild case of biotin-thiamine-responsive basal ganglia disease.
Journal: Molecular genetics and metabolism reports
Published: July 03, 2023
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.
Journal: Therapeutic advances in rare disease
Published: August 11, 2022
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Last Updated: 09/26/2026