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  • Title: The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.
    Author: Paschke E, Höfler G, Roscher A.
    Journal: J Inherit Metab Dis; 1987; 10(1):48-51. PubMed ID: 3106716.
    Abstract:
    An impairment in the regulation of N-acetylneuraminic acid (NANA) biosynthesis might potentially contribute to accumulation of free NANA in fibroblasts of patients with sialic acid storage disease (ISSD). By the use of a glucosamine loading test an increase in uridine-diphosphate-N-acetyl-hexosamines (UDP-HexNAc) but not in free NANA was found. NANA biosynthesis therefore appears to be under normal regulatory control in ISSD.
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