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    Helv Paediatr Acta. 1976 Jun;31(1):67-76.

    Galactosemia with endogenous production of galactose-1-phosphate and with cystic fibrosis-like appearance at autopsy.

    Abstract

    In an infant with galactosemia high levels of galactose-1-phosphate in red blood cells and of blood galactose were observed under a "galactose-free'' diet. The child did not thrive and developed a liver cirrhosis. At the age of 5 months he died unexpectedly. Post mortem examination revealed in the pancreas and the small intestine changes suggestive of a cystic fibrosis. Since the exogenous administration of galactose by diet could be excluded the endogenous production of significant amounts of galactose-1-phosphate has to be considered.

    PMID:
    939702
    [PubMed - indexed for MEDLINE]

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