fucose and Carbohydrate Metabolism, Inborn Error

fucose has been researched along with Carbohydrate Metabolism, Inborn Error in 91 studies

Research

Studies (91)

Timeframe	Studies, this research(%)	All Research%
pre-1990	86 (94.51)	18.7374
1990's	1 (1.10)	18.2507
2000's	4 (4.40)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Callewaert, N; Contreras, R; Jaeken, J; Matthijs, G; Schollen, E; Vanhecke, A	1
Yamashita, K	1
Farrow, BR; Healy, PJ; Hedberg, K; Nicholas, FW; Ratcliffe, R	1
Abraham, D; Blakemore, WF; Dell, A; Herrtage, ME; Jones, J; Littlewood, JT; Oates, J; Palmer, AC; Sidebotham, R; Winchester, B	1
Horigome, R; Ikeda, S; Kondo, K; Oguchi, K; Yanagisawa, N	1
Sewell, AC	1
Fluge, G; Lie, SO; Søvik, O; Van Hoof, F	1
Arashima, S; Kawaguchi, M; Kobata, A; Tachibana, Y; Yamashita, K	1
Beyer, D; Christomanou, H	1
Barns, RJ; Bate, MJ; Clague, AE; Kelly, WR; MacKay, BM	1
Den Tandt, WR; Jaeken, J	2
Flowers, HM	1
Federico, A; Guazzi, G	1
Beretta, M; Costantino, G; Mochi, M; Prosperi, L; Romeo, G; Sangiorgi, S	1
Boudet, C; Echenne, B; Maisongrosse, G	1
Porfiri, B; Ricci, R; Segni, G; Seminara, D	1
Baldet, P; Boudet, C; Echenne, B; Maisongrosse, G; Malan, P	1
Alhadeff, JA; Andrews-Smith, GL	1
Chien, SF; Dawson, G	1
Aula, P; Ekblom, P; Laurila, P; Nordling, S; Raivio, KO; Virtanen, I	1
de Bruyn, CH; Kleijnen, FM; Lamers, KJ; Schoonderwaldt, HC; van den Berg, CJ	1
Biermann, B; Brune, T; Fabritz, L; Freeze, HH; Harms, E; Koch, HG; Körner, C; Louwen, F; Lühn, K; Marquardt, T; van der Werft, N; Vestweber, D; von Figura, K; Vormoor, J; Zimmer, KP	1
Jaeken, J; Jakobs, C; Koeleman, C; Poland, D; Van Dijk, W; Van het Hof, B	1
Hirschberg, CB	1
Clayton, P; Johnson, A; Mills, K; Mills, P; Whitehouse, D; Winchester, B	1
Bergren, WR; Donnell, GN; Koch, R; Ng, WG	1
Di Matteo, G; Durand, P; Gatti, R; Maresca, A; Orfeo, M; Romeo, G; Urbano, F	1
Beratis, NG; Hirschhorn, K; Labadie, G; Turner, BM	1
Robinson, D; Thorpe, R	1
Logan, RW; MacPhee, GB; Primrose, DA	1
Evans, DA; Playfer, JR	1
Dreyfus, JC; Poenaru, L	1
Wood, S	2
Borrone, C; Durand, P; Gatti, R; Romeo, G	1
Cambier, PH; Ginsel, LA	1
Dvoretzky, I; Fisher, BK	1
Bamberger, J; Bourrillon, R; Cartron, J; Font, J; Lemonnier, M; Tchilian, MJ	1
Durand, P; Fournet, B; Montreuil, J; Spik, G; Strecker, G; Tondeur, M	1
Dawson, G; Susz, JP	1
Cavalieri, S; Gatti, R; Romeo, G	1
Hultberg, B	1
Aula, P; Autio, S; Chester, MA; Koskela, SL; Lundblad, A; Raivio, KO; Renlund, M	1
Arashima, S	1
Beluffi, G; Giovannini, M; Perego, O; Riva, E	1
Alhadeff, JA; Andrews-Smith, GL; O'Brien, JS	1
Brochu, P; Hausser, C; Jasmin, G; Larbrisseau, A; Ng Ying Kin, NM; Potier, M; Vanasse, M	1
Fournet, B; Montreuil, J; Strecker, G	1
Hirschhorn, K; Turner, BM; Turner, VS	1
Prindiville, DE; Stern, D	1
Snodgrass, MB	1
Bouquelet, S; Dhondt, JL; Farriaux, JP; Fournet, B; Montreuil, J; Strecker, G	1
Libert, J; Tondeur, M; Van Hoof, F	1
Dawson, G; Sung, SS; Tsay, GC	1
Durand, P	2
Borrone, C; Bugiani, O	1
Collart, M; Humbel, R	1
Dawson, G; Tsay, GC	1
Beratis, NG; Hirschhorn, K; Turner, BM; Turner, VS	1
Arashima, S; Ariga, S; Matsuda, I; Mitsuyama, T; Oka, Y	1
Cunningham, WL; Ramage, P	1
Beratis, NG; Hirschhorn, K; Turner, BM	1
Atkins, L; Kanfer, JN; Kolodny, EH; Littlefield, JW; Milunsky, A; Shih, VE	1
Borrone, C; Durand, P; Gatti, R; Trias, X	1
Beratis, NG; Danesino, C; Hirschhorn, K; Kousseff, BG	1
Eriksson, O; Hultberg, B; Ockerman, PA	1
Borrone, C; Della Cella, G; Durand, P	1
Spranger, JW; Wiedemann, HR	2
Feleki, V; Gordon, BA	1
O'Brien, JS	1
Bain, AD; Butterworth, J; McCrae, WM; Scott, F	1
Den Tandt, WR; Giesberts, MA	1
Humbel, R	1
Robinson, D	1
Touster, O	1
Arcilla, MB; Sturgeon, P	1
Lojda, Z	1
O'Brien, JS; Veath, ML; Zielke, K	1
Anakura, M; Arashima, S; Matsuda, I; Oka, Y	1
Berra, B; Brunngraber, EG; Zambotti, V	1
Herman, RH	1
Ockerman, PA	1
O'Brien, JS; Okada, S; Zielke, K	1
Patel, V; Watanabe, I; Zeman, W	1
Montreuil, J; Strecker, G	1
Brunngraber, EG	1
Borrone, C; Durand, P	1
Borrone, C; Della Cella, G; Durand, P; Philippart, M	1

Reviews

10 review(s) available for fucose and Carbohydrate Metabolism, Inborn Error

Article	Year
[Metabolic disorders of glycoproteins in congenital glycosidase deficiencies]. Seikagaku. The Journal of Japanese Biochemical Society, 1984, Volume: 56, Issue:5 Topics: Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Chromatography, Paper; Fucose; G(M1) Ganglioside; Gangliosidoses; Glucosidases; Glycoproteins; Humans; Lactose Intolerance; Mannose; Mucolipidoses; Mucopolysaccharidoses; Neuraminidase; Oligosaccharides; Sandhoff Disease	1984
Chemistry and biochemistry of D- and L-fucose. Advances in carbohydrate chemistry and biochemistry, 1981, Volume: 39 Topics: Animals; Antigens; Blood Group Antigens; Carbohydrate Metabolism, Inborn Errors; Fucose; Glycolipids; Glycoproteins; Humans; Immunity; Neoplasms; Polysaccharides; Stereoisomerism	1981
Urinary oligosaccharides in lysosomal and other metabolic disorders. Italian journal of neurological sciences, 1982, Volume: 3, Issue:1 Topics: Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Chromatography, Thin Layer; Fucose; Glycogen Storage Disease; Humans; Mannose; Marfan Syndrome; Mass Screening; Metabolism, Inborn Errors; Mucolipidoses; Oligosaccharides; Osteogenesis Imperfecta; Sandhoff Disease; Tay-Sachs Disease	1982
Golgi nucleotide sugar transport and leukocyte adhesion deficiency II. The Journal of clinical investigation, 2001, Volume: 108, Issue:1 Topics: Amino Acid Substitution; Animals; Arabs; Biological Transport; Carbohydrate Metabolism, Inborn Errors; Carrier Proteins; Cell Line; Child, Preschool; Consanguinity; Dimerization; DNA Mutational Analysis; Dogs; Ethnicity; Eukaryotic Cells; Fetal Growth Retardation; Fucose; Genetic Heterogeneity; Genetic Predisposition to Disease; Glycoproteins; Glycosylation; Golgi Apparatus; Guanosine Diphosphate Fucose; Humans; Infections; Intellectual Disability; Invertebrates; Lectins; Leukocyte-Adhesion Deficiency Syndrome; Male; Mammals; Monosaccharide Transport Proteins; Nucleoside Diphosphate Sugars; Phenotype; Point Mutation; Protein Processing, Post-Translational; Recurrence; Selection, Genetic; Turkey	2001
Prenatal genetic diagnosis (second of three parts). The New England journal of medicine, 1970, Dec-24, Volume: 283, Issue:26 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Diffuse Cerebral Sclerosis of Schilder; Female; Fetal Diseases; Fibroblasts; Fucose; Galactosemias; Gaucher Disease; Genetic Diseases, Inborn; Glycolipids; Glycosaminoglycans; Humans; Lipid Metabolism, Inborn Errors; Lipidoses; Metabolism, Inborn Errors; Niemann-Pick Diseases; Pregnancy; Refsum Disease; Sulfatases	1970
The genetic mucolipidoses. Neuropadiatrie, 1970, Volume: 2, Issue:1 Topics: Brain; Carbohydrate Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Child; Child, Preschool; Fucose; Gangliosides; Glycosaminoglycans; Humans; Infant; Intellectual Disability; Mannose; Mucopolysaccharidoses; Sphingolipids; Sulfoglycosphingolipids	1970
Multiple forms of glycosidases in the normal and pathological states. Enzyme, 1974, Volume: 18, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Chondroitin; Chromatography, Gel; Diffuse Cerebral Sclerosis of Schilder; Fabry Disease; Fucose; Galactosidases; Gangliosides; Gaucher Disease; Glycogen Storage Disease; Glycolipids; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Hydrogen-Ion Concentration; Infant; Isoenzymes; Lactose Intolerance; Lipid Metabolism, Inborn Errors; Lipidoses; Mannose; Mucopolysaccharidoses	1974
Some aspects of the cellular biochemistry of lysosomal and related glycosidases. Molecular and cellular biochemistry, 1973, Dec-15, Volume: 2, Issue:2 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Diffuse Cerebral Sclerosis of Schilder; Fucose; Galactosamine; Galactosidases; Gangliosides; Gaucher Disease; Glucosidases; Glucuronidase; Glycoside Hydrolases; Golgi Apparatus; Hexosaminidases; Humans; Hydrogen-Ion Concentration; Isoenzymes; Leukodystrophy, Metachromatic; Lipidoses; Lysosomes; Mannose; Neuraminidase; Serine; Xylose	1973
Cytochemistry of enterocytes and of other cells in the mucous membrane of the small intestine. Biomembranes, 1974, Volume: 4A, Issue:0 Topics: Alkaline Phosphatase; Animals; Carbohydrate Metabolism, Inborn Errors; Celiac Disease; Cell Membrane; Cell Nucleus; Esterases; Fucose; Galactosidases; Glucosidases; Glycoside Hydrolases; Golgi Apparatus; Guinea Pigs; Histocytochemistry; Humans; Intestinal Absorption; Intestinal Mucosa; Intestine, Small; Jejunum; Lysosomes; Microscopy, Electron; Mitochondria; Rabbits; Rats	1974
Mannose metabolism. II. The American journal of clinical nutrition, 1971, Volume: 24, Issue:5 Topics: Acetone; Alcohol Oxidoreductases; Aldehyde-Lyases; Aldehydes; Animals; Carbohydrate Metabolism, Inborn Errors; Carbon Isotopes; Child, Preschool; Consanguinity; Escherichia coli; Ethers; Ethnicity; Fucose; Glycolipids; Glycoproteins; Glycoside Hydrolases; Hexosephosphates; Humans; Hydro-Lyases; Isomerases; Liver; Mannose; Mice; Phosphoric Acids; Phosphotransferases; Propylene Glycols; Rats; Swine; Trioses	1971

Other Studies

81 other study(ies) available for fucose and Carbohydrate Metabolism, Inborn Error

Article	Year
Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. Glycobiology, 2003, Volume: 13, Issue:5 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Fucose; Glycoproteins; Glycoside Hydrolases; Glycosylation; Humans; Isoelectric Focusing; Liver Cirrhosis; Neuraminidase; Oligosaccharides; Phosphotransferases (Phosphomutases); Polysaccharides; Sequence Analysis, DNA; Transferrin	2003
Canine fucosidosis: a biochemical and genetic investigation. Research in veterinary science, 1984, Volume: 36, Issue:3 Topics: alpha-L-Fucosidase; Animals; Carbohydrate Metabolism, Inborn Errors; Dog Diseases; Dogs; Female; Fucose; Genes, Recessive; Hexosaminidases; Leukocytes; Male	1984
The enzymic defect and storage products in canine fucosidosis. The Biochemical journal, 1984, Aug-15, Volume: 222, Issue:1 Topics: alpha-L-Fucosidase; Animals; Brain; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Chromatography, DEAE-Cellulose; Chromatography, Gel; Chromatography, Thin Layer; Disease Models, Animal; Dog Diseases; Dogs; Fucose; Glycoside Hydrolases; Hydrogen-Ion Concentration; Male; Mass Spectrometry; Oligosaccharides	1984
[Electron microscopic examination of skin, stomach and rectum biopsies in adult fucosidosis]. Rinsho shinkeigaku = Clinical neurology, 1984, Volume: 24, Issue:4 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Female; Fucose; Humans; Microscopy, Electron; Rectum; Skin; Stomach	1984
Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis. European journal of pediatrics, 1980, Volume: 134, Issue:3 Topics: Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Thin Layer; Fucose; Gangliosidoses; Germany, West; Glycogen; Glycogen Storage Disease; Glycolipids; Glycoproteins; Humans; Infant; Mannosidases; Mass Screening; Mucolipidoses; Oligosaccharides	1980
Fucosidosis: severe phenotype with survival to adult age. European journal of pediatrics, 1980, Volume: 135, Issue:2 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Fabry Disease; Fucose; Humans; Liver; Male; Microscopy, Electron; Phenotype	1980
Digestion of asparagine-linked oligosaccharides by endo-beta-N-acetylglucosaminidase in the human skin fibroblasts obtained from fucosidosis patients. Journal of biochemistry, 1981, Volume: 90, Issue:5 Topics: Acetylglucosaminidase; Asparagine; Carbohydrate Metabolism, Inborn Errors; Fibroblasts; Fucose; Hexosaminidases; Humans; Hydrolysis; Mannosyl-Glycoprotein Endo-beta-N-Acetylglucosaminidase; Oligosaccharides; Skin; Substrate Specificity	1981
Absence of alpha-fucosidase activity in two sisters showing a different phenotype. European journal of pediatrics, 1983, Volume: 140, Issue:1 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fibroblasts; Fucose; Humans; Liver; Phenotype	1983
Canine alpha-L-fucosidosis: a storage disease of Springer Spaniels. Acta neuropathologica, 1983, Volume: 60, Issue:1-2 Topics: alpha-L-Fucosidase; Animals; Carbohydrate Metabolism, Inborn Errors; Central Nervous System; Dog Diseases; Dogs; Female; Fucose; Ganglia, Spinal; Male; Microscopy, Electron; Vacuoles; Vagus Nerve	1983
Confirmation of metachromatic leukodystrophy and fucosidosis by enzyme analysis of saliva. Neuropadiatrie, 1980, Volume: 11, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Fucose; Humans; Leukodystrophy, Metachromatic; Saliva	1980
Genetic and demographic characterization of a population with high incidence of fucosidosis. Human heredity, 1982, Volume: 32, Issue:2 Topics: Adolescent; alpha-L-Fucosidase; Blood Group Antigens; Carbohydrate Metabolism, Inborn Errors; Child; Consanguinity; Erythrocytes; Fucose; Gene Frequency; Humans; Italy; Population Dynamics	1982
[2 new cases of type II fucosidosis]. Bulletin des societes d'ophtalmologie de France, 1982, Volume: 82, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Fucose; Humans; Infant; Male; Retinal Vein	1982
Ultrastructural studies of type II fucosidosis. Archives of dermatological research, 1981, Volume: 270, Issue:1 Topics: Angiokeratoma; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Female; Fucose; Humans; Microscopy, Electron; Schwann Cells; Skin; Skin Neoplasms	1981
[Type II fucosidosis. Ultrastructural study of the conjunctiva]. Bulletins et memoires de la Societe francaise d'ophtalmologie, 1981, Volume: 93 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Conjunctiva; Fucose; Humans; Infant; Male	1981
Purification and characterization of alpha-L-fucosidase from the liver of a fucosidosis patient. The Biochemical journal, 1980, Apr-01, Volume: 187, Issue:1 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Chromatography, Affinity; Fucose; Hot Temperature; Humans; Hydrogen-Ion Concentration; Isoelectric Focusing; Kinetics; Liver	1980
Purification and properties of two forms of human alpha-L-fucosidase. Biochimica et biophysica acta, 1980, Aug-07, Volume: 614, Issue:2 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Fibroblasts; Fucose; Humans; Kinetics; Macromolecular Substances; Molecular Weight; Oligosaccharides; Spleen; Substrate Specificity	1980
Characterization of storage material in cultured fibroblasts by specific lectin binding in lysosomal storage diseases. Pediatric research, 1980, Volume: 14, Issue:11 Topics: Carbohydrate Metabolism, Inborn Errors; Fibroblasts; Fluorescent Dyes; Fucose; Glucose; Histocytochemistry; Humans; Lectins; Lysosomes; Mannose; Mucolipidoses	1980
Two patients with an unusual form of type II fucosidosis. Clinical genetics, 1980, Volume: 18, Issue:5 Topics: Adult; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Dementia; Dwarfism; Fucose; Humans; Male; Radiography; Skin	1980
Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism. The Journal of pediatrics, 1999, Volume: 134, Issue:6 Topics: C-Reactive Protein; Carbohydrate Metabolism, Inborn Errors; Chromatography, Affinity; E-Selectin; Fetal Growth Retardation; Fucose; Humans; Infant; Leukocyte Count; Leukocyte-Adhesion Deficiency Syndrome; Lewis X Antigen; Male; Neutrophils; P-Selectin; Pedigree; Ultrasonography, Prenatal	1999
Increased alpha3-fucosylation of alpha(1)-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia). FEBS letters, 2001, Apr-13, Volume: 494, Issue:3 Topics: Amidohydrolases; Carbohydrate Metabolism, Inborn Errors; Fucose; Fucosyltransferases; Glycosylation; Humans; Lectins; Molecular Weight; Neuraminidase; Orosomucoid; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Polysaccharides	2001
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. The Biochemical journal, 2001, Oct-15, Volume: 359, Issue:Pt 2 Topics: alpha 1-Antitrypsin; Amidohydrolases; Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Case-Control Studies; Electrophoresis, Gel, Two-Dimensional; Fucose; Glycosylation; Humans; Molecular Sequence Data; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Polysaccharides; Protein Processing, Post-Translational; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2001
Urinary alpha-L-fucosidase. Birth defects original article series, 1975, Volume: 11, Issue:6 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Cerebroside-Sulfatase; Child; Disaccharidases; Fucose; Heterozygote; Humans	1975
Human alpha-fucosidase. Single residual enzymatic form in fucosidosis. Biochimica et biophysica acta, 1976, Apr-08, Volume: 429, Issue:2 Topics: Adolescent; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child; Disaccharidases; Female; Fibroblasts; Fucose; Humans; Hydrogen-Ion Concentration; Isoelectric Focusing; Isoenzymes; Kinetics; Male; Neuraminidase; Temperature	1976
alpha-L-fucosidase in cultured skin fibroblasts from normal subjects and fucosidosis patients. Pediatric research, 1977, Volume: 11, Issue:7 Topics: alpha-L-Fucosidase; Biopsy; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Fibroblasts; Fucose; Humans; Hydrogen-Ion Concentration; Pedigree; Skin	1977
Purification and serological studies of human alpha-L-fucosidase in the normal and fucosidosis states. Clinica chimica acta; international journal of clinical chemistry, 1978, May-16, Volume: 86, Issue:1 Topics: alpha-L-Fucosidase; Animals; Antibodies; Carbohydrate Metabolism, Inborn Errors; Chromatography, Affinity; Chromatography, Gel; Cross Reactions; Electrophoresis, Polyacrylamide Gel; Fucose; Humans; Hydrogen-Ion Concentration; Immunodiffusion; Liver; Rabbits	1978
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis. Clinica chimica acta; international journal of clinical chemistry, 1979, Sep-15, Volume: 97, Issue:1 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Cerebroside-Sulfatase; Fucose; Glycoside Hydrolases; Hot Temperature; Humans; Hydrogen-Ion Concentration; Leukodystrophy, Metachromatic; Lysosomes; Protein Denaturation; Saliva	1979
Fucosidosis: How many cases undetected? Lancet (London, England), 1975, Sep-06, Volume: 2, Issue:7932 Topics: Adult; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Female; Fucose; Humans	1975
Enzyme activity in fucosidosis. Lancet (London, England), 1976, Dec-25, Volume: 2, Issue:8000 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Female; Fucose; Humans; Leukocytes; Male; Phenotype	1976
Enzyme activity in fucosidosis. Lancet (London, England), 1977, Jan-29, Volume: 1, Issue:8005 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Fucose; Humans	1977
Genetic control of alpha-L-fucosidase. Lancet (London, England), 1977, Feb-12, Volume: 1, Issue:8007 Topics: Alleles; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Fucose; Humans; Phenotype	1977
Fucosidosis in Calabria: founder effect or high gene frequency. Lancet (London, England), 1977, Feb-12, Volume: 1, Issue:8007 Topics: ABO Blood-Group System; Adult; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Disaccharidases; Female; Fucose; Gene Frequency; Humans; Inbreeding; Italy; Male; Pedigree; Saliva	1977
Fucosidosis and I-cell disease: a fine structural and silver-staining study of abnormal inclusion bodies in small-intestinal cells. Virchows Archiv. B, Cell pathology, 1978, Mar-29, Volume: 27, Issue:2 Topics: Adolescent; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Fucose; Glycoproteins; Glycosaminoglycans; Golgi Apparatus; Humans; Inclusion Bodies; Infant; Intestine, Small; Lipids; Lymphocytes; Lysosomes; Male; Mucolipidoses; Silver; Staining and Labeling; Vacuoles	1978
Fucosidosis. International journal of dermatology, 1979, Volume: 18, Issue:3 Topics: alpha-L-Fucosidase; Angiokeratoma; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; Fabry Disease; Female; Fucose; Humans; Infant; Male; Skin; Skin Neoplasms	1979
[Fucosidosis and blood group substances in the urine]. Comptes rendus des seances de l'Academie des sciences. Serie D, Sciences naturelles, 1979, Jul-09, Volume: 289, Issue:2 Topics: Blood Group Antigens; Carbohydrate Metabolism, Inborn Errors; Child; Fucose; Glycopeptides; Hemagglutination Inhibition Tests; Humans; Oligosaccharides	1979
[Structures of 9 oligosaccharides and glycopeptides containing large amounts of fucose excreted in the urine of 2 patients with fucosidosis]. Comptes rendus hebdomadaires des seances de l'Academie des sciences. Serie D: Sciences naturelles, 1977, Jan-03, Volume: 284, Issue:1 Topics: ABO Blood-Group System; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Disaccharidases; Fucose; Genotype; Glycopeptides; Glycoproteins; Humans; Lewis Blood Group Antigens; Oligosaccharides	1977
The affinity of the fucose-binding lectin from Lotus tetragonolobus for glycopeptides and oligosaccharides accumulating in fucosidosis. Journal of neurochemistry, 1979, Volume: 32, Issue:3 Topics: Brain; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Fucose; Glycopeptides; Humans; Lectins; Oligosaccharides	1979
Relationship between alpha-L-fucosidase deficiency in plasma and alpha-L-fucosidase activity in leukocytes. Human genetics, 1979, Apr-17, Volume: 48, Issue:1 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child; Fucose; Genes, Recessive; Genotype; Humans; Leukocytes; Mutation; Pedigree	1979
Metabolism of mannose and fucose in cultured fibroblasts from patients with mannosidosis and mucolipidosis. Human heredity, 1979, Volume: 29, Issue:4 Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Chromatography, Gel; Chromatography, Paper; Electrophoresis; Fibroblasts; Fucose; Humans; Mannose; Mucolipidoses	1979
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease. European journal of biochemistry, 1979, Nov-01, Volume: 101, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Colorimetry; Female; Fucose; Hexosamines; Humans; Male; Mass Spectrometry; Sialic Acids	1979
[Fucosidosis and mannosidosis]. Nihon rinsho. Japanese journal of clinical medicine, 1978, Volume: Suppl Topics: Adult; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child; Fucose; Humans; Infant; Male; Mannose; Mannosidases	1978
[Fucosidosis. Description of a clinical case]. Minerva pediatrica, 1978, Aug-31, Volume: 30, Issue:16 Topics: Carbohydrate Metabolism, Inborn Errors; Child; Fucose; Heterozygote; Humans; Male	1978
Biochemical studies on an unusual case of fucosidosis. Clinical genetics, 1978, Volume: 14, Issue:4 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Fucose; Glycolipids; Humans; Hymecromone; Liver; Spleen	1978
[Fucosidosis: 1st Canadian case]. L'union medicale du Canada, 1978, Volume: 107, Issue:10 Topics: alpha-L-Fucosidase; Canada; Carbohydrate Metabolism, Inborn Errors; Fucose; Humans; Infant; Male	1978
Structure of the three major fucosyl-glycoasparagines accumulating in the urine of a patient with fucosidosis. Biochimie, 1978, Volume: 60, Issue:8 Topics: Carbohydrate Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Chromatography, Paper; Fucose; Glycopeptides; Humans; Magnetic Resonance Spectroscopy; Mass Spectrometry; Oligosaccharides	1978
Metabolic correction of fucosidosis fibroblasts by human alpha-L-fucosidase. Journal of cellular physiology, 1979, Volume: 98, Issue:1 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Cell Line; Fibroblasts; Fucose; Humans; Isoenzymes; Lysosomes	1979
Oral lesions in fucosidosis. Journal of oral surgery (American Dental Association : 1965), 1976, Volume: 34, Issue:7 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; Fabry Disease; Fucose; Gingival Diseases; Humans; Male; Mucopolysaccharidoses	1976
Ocular findings in a case of fucosidosis. The British journal of ophthalmology, 1976, Volume: 60, Issue:7 Topics: Adult; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Disaccharidases; Female; Fucose; Humans; Macular Degeneration; Retinal Degeneration	1976
[Chemistry of urinary mannosides excreted in mannosidosis]. Biochimie, 1976, Volume: 58, Issue:5 Topics: Acetylglucosamine; Carbohydrate Metabolism, Inborn Errors; Chromatography, Gas; Chromatography, Paper; Fucose; Glycoproteins; Glycosides; Humans; Mannose; Mannosides; Oligosaccharides	1976
Fucosidosis: ultrastructural study of conjunctiva and skin and enzyme analysis of tears. Investigative ophthalmology, 1976, Volume: 15, Issue:8 Topics: alpha-L-Fucosidase; Biopsy; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Conjunctiva; Disaccharidases; Female; Fucose; Humans; Leukocytes; Microscopy, Electron; Skin; Tears	1976
Cultured fucosidosis fibroblasts: a simple technique demonstrating storage of tritiated-fucose labeled material. Clinical genetics, 1976, Volume: 10, Issue:3 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Disaccharidases; Fibroblasts; Fucose; Humans; Tritium	1976
Structure of the accumulating oligosaccharide in fucosidosis. The Journal of biological chemistry, 1976, Oct-10, Volume: 251, Issue:19 Topics: Acetylglucosamine; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Fucose; Galactose; Glycopeptides; Glycosphingolipids; Humans; Kidney; Lung; Lymph Nodes; Mannose; Molecular Weight; Oligosaccharides; Pancreas; Sialic Acids; Spleen	1976
Fucosidosis: diagnosis of five patients and carrier detection. Rivista di patologia nervosa e mentale, 1976, Volume: 97, Issue:3 Topics: Adult; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Fucose; Humans; Leukocytes; Pedigree	1976
Fucosidosis: a neuropathological study. Rivista di patologia nervosa e mentale, 1976, Volume: 97, Issue:3 Topics: alpha-L-Fucosidase; Brain; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Fucose; Glycolipids; Humans; Infant; Male	1976
Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography. Clinica chimica acta; international journal of clinical chemistry, 1975, Apr-16, Volume: 60, Issue:2 Topics: Aspartic Acid; Carbohydrate Metabolism, Inborn Errors; Chromatography, Thin Layer; Fucose; Glucosamine; Glycoproteins; Humans; Mannose; Methods; Oligosaccharides; Time Factors	1975
Glycopeptide storage in fibroblasts from patients with inborn errors of glycoprotein and glycosphingolipid catabolism. Biochemical and biophysical research communications, 1975, Apr-07, Volume: 63, Issue:3 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; Fucose; Galactose; Galactosidases; Glucosamine; Glycopeptides; Hexosaminidases; Humans; Lipid Metabolism, Inborn Errors; Mannose; Mannosidases; Metabolism, Inborn Errors; Sialic Acids; Skin	1975
Silent allele as genetic basis of fucosidosis. Nature, 1975, Oct-02, Volume: 257, Issue:5525 Topics: Alleles; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Fucose; Genotype; Humans; Isoenzymes; Male; Pedigree; Phenotype	1975
Prenatal diagnosis of fucosidosis. Clinica chimica acta; international journal of clinical chemistry, 1975, Aug-18, Volume: 63, Issue:1 Topics: alpha-L-Fucosidase; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Female; Fucose; Galactose; Hexosamines; Humans; Mannose; Mannosidases; Pregnancy; Prenatal Diagnosis; Sialic Acids	1975
The occurrence of low alpha-L-fucosidase activities in normal human serum. Biochimica et biophysica acta, 1975, Oct-22, Volume: 403, Issue:2 Topics: Acetylglucosaminidase; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Female; Fucose; Humans; Male; Mannosidases	1975
Fucosidosis: detection of the carrier state in peripheral blood leukocytes. The Journal of pediatrics, 1975, Volume: 87, Issue:6 Pt 2 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Disaccharidases; Female; Fucose; Granulocytes; Humans; Leukocytes; Lymphocytes; Male; Mannosidases	1975
[Recent acquisitions on fucosidosis]. Archives francaises de pediatrie, 1975, Volume: 32, Issue:9 Topics: Adult; alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Disaccharidases; Fucose; Humans	1975
Letter: Genetic heterogeneity in fucosidosis. Lancet (London, England), 1973, Nov-03, Volume: 302, Issue:7836 Topics: Adolescent; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Ethnicity; Fabry Disease; Female; Fucose; Heterozygote; Humans; Infant; Leukocytes; Lewis Blood Group Antigens; Male; Mucopolysaccharidosis IV; Syndrome	1973
Letter: Genetic heterogeneity in fucosidosis. Lancet (London, England), 1973, Dec-15, Volume: 2, Issue:7842 Topics: Bone Diseases, Developmental; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Fabry Disease; Face; Fucose; Humans; Intellectual Disability; Male; Syndrome	1973
Enzyme patterns in tissues and body fluids in mucopolysaccharidoses. Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 25, Issue:1 Topics: Acid Phosphatase; Brain; Carbohydrate Metabolism, Inborn Errors; Chromatography, Gel; Fucose; Galactosidases; Glucosamine; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hot Temperature; Humans; Intellectual Disability; Kidney; Mannose; Molecular Weight; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Spleen	1969
Fucosidosis. The Journal of pediatrics, 1969, Volume: 75, Issue:4 Topics: Brain Diseases; Carbohydrate Metabolism, Inborn Errors; Cerebral Cortex; Female; Fucose; Glycosaminoglycans; Glycoside Hydrolases; Humans; Infant; Infant, Newborn; Intellectual Disability; Liver; Male; Microscopy, Electron; Muscular Diseases; Myocardium	1969
The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik, 1970, Volume: 9, Issue:2 Topics: Bone Marrow Examination; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; Female; Fucose; Gangliosides; Glycolipids; Glycosaminoglycans; Hand; Hip; Humans; Infant; Leg; Lipid Metabolism; Male; Mannose; Mucopolysaccharidoses; Phospholipids; Radiography; Spine	1970
Acid hydrolases in the serum and liver in mucopolysaccharidoses types I and 3. Clinical biochemistry, 1970, Volume: 3, Issue:3 Topics: Acid Phosphatase; Adolescent; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Fucose; Galactosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Hyaluronoglucosaminidase; Intellectual Disability; Liver; Mannose; Mucopolysaccharidosis I; Sulfatases	1970
Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients. Proceedings of the National Academy of Sciences of the United States of America, 1972, Volume: 69, Issue:7 Topics: Acetates; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Female; Fibroblasts; Fucose; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Intellectual Disability; Kidney; Liver; Male; Mucopolysaccharidoses; Pregnancy; Retinitis Pigmentosa; Skin	1972
Lysosomal enzymes of cultured fibroblasts of cystic fibrosis patients. Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 40, Issue:1 Topics: Acetates; Acid Phosphatase; Arabinose; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Child; Chondroitin; Cystic Fibrosis; Fibroblasts; Fucose; Galactosidases; Glucosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Lysosomes; Mannose; Mucopolysaccharidoses	1972
Deficiency of lysosomal enzymes in storage diseases. Biochemical medicine, 1973, Volume: 7, Issue:3 Topics: Acetates; Acid Phosphatase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fucose; Galactosidases; Glucuronidase; Glycolipids; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Hydrolases; Infant; Intellectual Disability; Leukocytes; Lipid Metabolism, Inborn Errors; Liver; Lysosomes; Male; Middle Aged; Mucopolysaccharidoses; Sulfatases	1973
Identification and quantitation of keratan sulfate in urine. Clinica chimica acta; international journal of clinical chemistry, 1974, Volume: 52, Issue:2 Topics: Adult; Athetosis; Carbohydrate Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Thin Layer; Evaluation Studies as Topic; Fucose; Galactose; Glucosamine; Glycosaminoglycans; Humans; Methods; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa	1974
Le-x, the spurned antigen of the Lewis blood group system. Vox sanguinis, 1974, Volume: 26, Issue:5 Topics: ABO Blood-Group System; Absorption; Adenocarcinoma; Amniotic Fluid; Antibody Specificity; Blood; Carbohydrate Metabolism, Inborn Errors; Erythrocytes; Fetus; Fucose; Hemagglutination Inhibition Tests; Hemagglutination Tests; Humans; Immune Sera; Immunologic Techniques; Isoantibodies; Isoantigens; Lewis Blood Group Antigens; Liver; Liver Diseases; Phenotype; Saliva; Tissue Extracts; Umbilical Cord	1974
Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts. The Journal of experimental medicine, 1972, Jul-01, Volume: 136, Issue:1 Topics: Amniocentesis; Amnion; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Cystic Fibrosis; Fibroblasts; Fucose; Glycoside Hydrolases; Humans; In Vitro Techniques; Lipidoses; Male; Mucopolysaccharidoses; Niemann-Pick Diseases; Skin	1972
Alpha-L-fucosidase and alpha-D-mannosidase activity in the white blood cells in the disease and carrier state of fucosidosis. Clinica chimica acta; international journal of clinical chemistry, 1973, Sep-28, Volume: 48, Issue:1 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Child; Female; Fucose; Glycoside Hydrolases; Heterozygote; Hot Temperature; Humans; Kinetics; Leukocytes; Lysosomes; Male; Mannose; Phenotype	1973
Brain glycoproteins in GM1-gangliosidosis: isolation and carbohydrate composition of glycopeptides. FEBS letters, 1973, Aug-15, Volume: 34, Issue:2 Topics: Brain; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fucose; Galactose; Gangliosides; Glycopeptides; Glycoproteins; Hexosamines; Humans; Infant; Leukodystrophy, Globoid Cell; Mannose; Neuraminic Acids	1973
Mannosidosis: isolation of oligosaccharide storage material from brain. The Journal of pediatrics, 1969, Volume: 75, Issue:3 Topics: Amino Acids; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Chromatography; Chromatography, Gel; Diagnosis, Differential; Fucose; Galactose; Glucosamine; Glucose; Glycoside Hydrolases; Hexosamines; Humans; Liver; Mannose; Monosaccharides; Mucopolysaccharidoses; Neuraminic Acids; Oligosaccharides; Uronic Acids	1969
Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase. The Journal of laboratory and clinical medicine, 1972, Volume: 79, Issue:1 Topics: Buffers; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Clinical Enzyme Tests; Fucose; Glycoside Hydrolases; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Male; Methods; Temperature	1972
Deficiency of alpha-L-fucosidase. Science (New York, N.Y.), 1972, Apr-28, Volume: 176, Issue:4033 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Fucose; Glycoside Hydrolases; Humans; Intellectual Disability; Lysosomes; Male; Metabolism, Inborn Errors; Microscopy, Electron; Skin	1972
[Oligosaccharide excretion in a case of GM 2 gangliosidosis due to total N-acetylhexosaminidase deficiency]. Clinica chimica acta; international journal of clinical chemistry, 1971, Volume: 33, Issue:2 Topics: Acetates; Carbohydrate Metabolism, Inborn Errors; Chemical Precipitation; Chromatography; Chromatography, Ion Exchange; Chromatography, Paper; Colorimetry; Ethanol; Fucose; Galactose; Gangliosides; Glucosamine; Glucose; Glycoproteins; Glycoside Hydrolases; Hexosamines; Hexosaminidases; Hexoses; Humans; Infant; Lipid Metabolism, Inborn Errors; Lipidoses; Mannose; Monosaccharides; Neuraminic Acids; Oligosaccharides; Uronic Acids	1971
Mannosidosis and fucosidosis. The Journal of pediatrics, 1970, Volume: 77, Issue:1 Topics: Animals; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Fucose; Glycoproteins; Humans; Mannose; Rats	1970
Fucosidosis and mannosidosis, glycoprotein and glycosylceramide storage diseases. Helvetica paediatrica acta, 1971, Volume: 26, Issue:1 Topics: Brain Diseases; Carbohydrate Metabolism, Inborn Errors; Fucose; Glycoproteins; Humans; Mannose	1971
[Fucosidosis: a new congenital error of metabolism]. Minerva pediatrica, 1969, Jan-28, Volume: 21, Issue:4 Topics: Carbohydrate Metabolism, Inborn Errors; Consanguinity; Female; Fucose; Humans; Infant, Newborn; Male	1969