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The Lancet, ISSN 0140-6736, 11/1968, Volume 292, Issue 7577, pp. 1080 - 1080
Journal Article
Journal Article
The Lancet, ISSN 0140-6736, 11/1973, Volume 302, Issue 7836, pp. 1024 - 1024
Journal Article
The Lancet, ISSN 0140-6736, 09/1975, Volume 306, Issue 7933, pp. 508 - 509
Journal Article
Journal Article
The Lancet, ISSN 0140-6736, 02/1977, Volume 309, Issue 8007, pp. 368 - 369
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1978, Volume 2, Issue 1, pp. 23 - 29
Journal Article
Journal of Biochemistry, ISSN 0021-924X, 1978, Volume 84, Issue 4, pp. 823 - 834
Urine of a fucosidosis patient contained a large amount of fucosyl oligosaccharides and fucose-rich glycopeptides. Six major oligosaccharides were purified by... 
Oligosaccharides - urine | Humans | Molecular Conformation | Carbohydrate Metabolism, Inborn Errors - urine | Carbohydrates - analysis | Epitopes | Carbohydrate Metabolism, Inborn Errors - immunology | alpha-L-Fucosidase - deficiency
Journal Article
Virchows Archiv B Cell Pathology, ISSN 0042-6431, 12/1978, Volume 27, Issue 1, pp. 99 - 117
Journal Article
Clinical Genetics, ISSN 0009-9163, 11/1979, Volume 16, Issue 5, pp. 357 - 363
The activity and properties of a‐L‐fucosidase in 24 samples of amniotic fluid have been investigated using the 4‐methylumbelliferyl substrate. A wide range of... 
fucosidosis | a‐L‐fucosidase | prenatal diagnosis | Amniotic fluid
Journal Article
Clinical Genetics, ISSN 0009-9163, 11/1980, Volume 18, Issue 5, pp. 348 - 354
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 12/1980, Volume 135, Issue 2, pp. 211 - 216
Journal Article
Archives of Dermatological Research, ISSN 0340-3696, 02/1981, Volume 270, Issue 1, pp. 57 - 66
Type II fucosidosis in an autosomal recessive disease. The paper presents a case of a patient with alpha-L-fucosidase of whom a skin specimen was examined... 
Type II fucosidosis | Microscopy, electron | Skin | Skin Neoplasms - pathology | Schwann Cells - ultrastructure | Fucose - metabolism | Humans | Angiokeratoma - pathology | Child, Preschool | Skin - ultrastructure | Female | Microscopy, Electron | Carbohydrate Metabolism, Inborn Errors - pathology
Journal Article
BBA - General Subjects, ISSN 0304-4165, 1982, Volume 715, Issue 1, pp. 90 - 96
Purified human liver α-l-fucosidase (EC 3.2.1.51) has been radioiodinated by a chloramine-T procedure to a specific activity of 3.7·10 dpm/μg protein without... 
Fucosidosis | α- l-Fucosidase | Radioimmunoassay | α-l-Fucosidase
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 1983, Volume 140, Issue 1, pp. 27 - 29
Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete alpha-L-fucosidase... 
α-fucosidase | Fucosidosis | Mental deterioration | Oligosaccharides | Clinical heterogeneity | Fibroblasts - enzymology | Phenotype | Liver - enzymology | Fucose - metabolism | Humans | Child, Preschool | Female | Child | Carbohydrate Metabolism, Inborn Errors - diagnosis | alpha-L-Fucosidase - deficiency
Journal Article
Journal of Histochemistry and Cytochemistry, ISSN 0022-1554, 12/1984, Volume 32, Issue 12, pp. 1280 - 1284
Journal Article
Journal francais d'ophtalmologie, ISSN 0181-5512, 1984, Volume 7, Issue 8-9, p. 519
Journal Article
Research in Veterinary Science, ISSN 0034-5288, 05/1984, Volume 36, Issue 3, pp. 354 - 359
Journal Article
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