Digitale Medien
Springer
European journal of pediatrics
140 (1983), S. 27-29
ISSN:
1432-1076
Schlagwort(e):
Fucosidosis
;
α-fucosidase
;
Oligosaccharides
;
Mental deterioration
;
Clinical heterogeneity
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete α-l-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of α-l-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00661900
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