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Absence of alpha-fucosidase activity in two sisters showing a different phenotype.

Abstract
Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete alpha-L-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of alpha-L-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.
AuthorsH Christomanou, D Beyer
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 140 Issue 1 Pg. 27-9 (Mar 1983) ISSN: 0340-6199 [Print] Germany
PMID6873107 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Fucose
  • alpha-L-Fucosidase
Topics
  • Carbohydrate Metabolism, Inborn Errors (diagnosis)
  • Child
  • Child, Preschool
  • Female
  • Fibroblasts (enzymology)
  • Fucose (metabolism)
  • Humans
  • Liver (enzymology)
  • Phenotype
  • alpha-L-Fucosidase (deficiency)

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