General Neurology
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Sep. 07, 2024
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Summary of the details and clinical presentation of galactosemia and other galactose-related congenital disorders of glycosylation
Red color, reported symptom; grey color, absent symptom; the symbol “?” indicates symptoms unclearly correlated with the disease. Abbreviations: chr, chromosome; Gal, galactose; Glc, glucose; GalNAc, N-acetyl-α-D-galactosamine; GlcNAc, N-acetyl-α-D-glucosamine; 1P, phosphate on carbon 1; UDP, uridine diphosphate; proCOL, procollagen; M, million; K, thousand. (Source: Conte F, van Buuringen N, Voermans NC, Lefeber DJ. Galactose in human metabolism, glycosylation, and congenital metabolic diseases: time for a closer look. Biochim Biophys Acta Gen Subj 2021;1865[8]:129898. CC BY License, http://creativecommons.org/licenses/by/4.0.)