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.
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Authors | H Christomanou, D Beyer |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 140
Issue 1
Pg. 27-9
(Mar 1983)
ISSN: 0340-6199 [Print] Germany |
PMID | 6873107
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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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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