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Keywords: Carbohydrate-deficient transferrin
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Journal Articles
Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia – A Case Report
Open AccessSubject Area:
Neurology and Neuroscience
Journal:
Case Reports in Neurology
Case Rep Neurol (2024) 16 (1): 55–62.
Published Online: 07 February 2024
..., consanguinity of the parents, motor coordination issues, and diarrhea and vomiting in infancy. An important finding that enabled us to solve the diagnostic conundrum was the elevated carbohydrate-deficient transferrin levels in the lack of alcohol-related symptoms, which also occur in untreated carbohydrate...