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  • Title: [The Fanconi-Bickel syndrome: one more case].
    Author: Ruffa G, Ferrando M, Sbolgi P, Bartolozzi G, Lavia N.
    Journal: Minerva Pediatr; 1992 Jun; 44(6):313-8. PubMed ID: 1635533.
    Abstract:
    The association of de Toni-Debré-Fanconi syndrome with alteration of galactose metabolism and glycogen hepatic storage, before further clarification, is defined as Fanconi-Bickel syndrome. The Authors present a case in which the alterations in galactose metabolism typically do not affect the enzymes responsible for galactosemia. In such patients a recognised enzymatic defect glycogenosis is not involved and glycogen storage in the liver can be a secondary phenomenon, which can increase, differing according to each subject. Liver biopsy to detect storage can be avoided when all the other diagnostic criteria are observed.
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