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mannose and Carbohydrate Metabolism, Inborn Error

mannose has been researched along with Carbohydrate Metabolism, Inborn Error in 116 studies

Research

Studies (116)

Timeframe	Studies, this research(%)	All Research%
pre-1990	105 (90.52)	18.7374
1990's	1 (0.86)	18.2507
2000's	9 (7.76)	29.6817
2010's	1 (0.86)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Kamps, WA; Lefeber, DJ; Tamminga, RY; van Spronsen, FJ	1
Körner, C; Thiel, C	1
MALYOTH, G; SCHEPPE, K; STEIN, HW	1
Lehrman, MA; Shang, J	1
Aebi, M; Berger, EG; Frank, CG; Grubenmann, CE; Hennet, T; Hülsmeier, AJ; Matthijs, G; Mayatepek, E; Schollen, E	1
Botti, J; Codogno, P; Frénoy, JP; Lavieu, G	1
Bode, L; Borowsky, AD; Davis, JA; DeRossi, C; Eklund, EA; Freeze, HH; Wang, L; Westphal, V; Zhang, F	1
Cretz, M; de Keyzer, Y; de Lonlay, P; Galmiche, L; Jaubert, F; Kuster, A; Lacaille, F; Mention, K; Romano, S; Seta, N; Valayannopoulos, V; Zaidan, H	1
Halperin, JJ; Kolodny, EH; Landis, DM; Lott, IT; Weinstein, LA	1
Cenci di Bello, I; Dorling, P; Winchester, B	1
Dreyfus, JC; Gautron, S; Miranda, MC; Poenaru, L; Puissant, H	1
Winchester, B	1
Yamashita, K	1
Kelly, WD; Weiss, SW	1
Jones, MZ; Malachowski, JA	1
Jones, MZ; Lovell, KL	1
Abraham, D; Blakemore, WF; Jolly, RD; Sidebotham, R; Winchester, B	1
Mock, AK; Nyhan, WL; O'Brien, JS; Warner, TG	1
Alessi, DM; Benitez, JT; Cunningham, JG; Dade, AW; Jones, MZ; Lovell, KL; Mostosky, UV; Vorro, JR	1
Dickersin, CR; Fingert, H; Lott, IT; Press, OW	1
Dodds, WJ; Jolly, RD; Ruth, GR; Trauner, DB	1
Federico, A; Guazzi, G	1
Egge, H; Michalski, JC; Strecker, G	1
Ben-Yoseph, Y; Charrow, J; DeFranco, CL; Hahn, LC; Nadler, HL	1
Montgomery, TR; Thomas, GH; Valle, DL	1
Jolly, RD	4
Alessi, DM; Cunningham, JG; Dade, AW; Dawson, G; Jones, MZ; Laine, RA; Mostosky, UV; Vorro, JR; Williams, CS	1
Autio, S; Helenius, M; Louhimo, T	1
Barnes, IC; Harper, PS; Patton, MA; Pennock, CA; Young, ID	1
Daniel, PF; Lott, IT	1
Blakemore, WF; Purpura, DP; Walkley, SU	1
Blakemore, WF; Burditt, LJ; Chotai, K; Hirani, S; Nugent, PG; Winchester, BG	1
Daniel, PF; Defeudis, DF; Lott, IT	1
Jones, MZ; Laine, RA; Matsuura, F	1
Erickson, RP; Hicks, SP; Hieber, V; Mitchell, ML; Poznanski, AK; Schmid, D	1
Matsuura, F; Nunez, HA; Sweeley, CC	1
Chester, A; Hultberg, B; Nordén N, E; Szabó, L	1
Burditt, L; Chotai, K; Halley, D; Winchester, B	1
Jolly, RD; Murphy, CE; Slack, PM; Winter, PJ	1
Aula, P; Ekblom, P; Laurila, P; Nordling, S; Raivio, KO; Virtanen, I	1
Orlean, P	1
Freeze, HH; Panneerselvam, K; Rush, JS; Waechter, CJ	1
Alper, J	1
Hultberg, B; Lundblad, A; Masson, PK; Ockerman, PA	1
Cantz, M; Gehler, J; O'Brien, JF; Spranger, J; Tolksdorf, M	1
Jolly, RD; Thompson, KG; Winchester, BG	1
Dickersin, R; Dvorak, AM; Friedman, RB; Kistler, JP; Kolodny, EH; Lott, IT; Mihm, MC; Nersasian, R; Schnur, J	1
Hirani, S; Patrick, AD; Winchester, BG	1
Phillips, NC; Thorpe, R	1
Dreyfus, JC; Poenaru, L	1
Quie, PG	1
Burditt, LJ; Chotai, KA; Winchester, BG	1
Montreuil, J; Strecker, G	2
Gottschling, HD; Hahn, HJ; Schäfer, H	1
Hultberg, B; Sjöblad, S	1
Konyár, E; Mónus, Z; Szabó, L	1
Hirani, S; Winchester, B	1
Hultberg, B	1
Eldridge, FE; Jolly, RD; Leipold, HW; Smith, JE	1
Bourtel, G; Ferrari, P; Krieger, D	1
Black, IE; Hugh-Jones, K; Milla, PJ; Oberholzer, V; Patrick, AD	1
Danis, P; Farriaux, JP; Libert, J; Mandelbaum, I; Tondeur, M; Vamos-Hurwitz, E; Van Hoof, F	1
Jolly, RD; Thompson, KG	1
Friedman, RB; Kolodny, EH; Moser, HW; Williams, MA	1
Arashima, S	1
Burditt, LJ; Jolly, RD; Phillips, NC; Robinson, D; Van-de-Water, NS; Winchester, BG	1
Dhondt, JL; Farriaux, JP; Strecker, G	1
Bouquelet, S; Dhondt, JL; Farriaux, JP; Fournet, B; Montreuil, J; Strecker, G	1
Arbisser, AI; Garcia, CA; Howell, RR; Murphree, AL	1
Buddecke, E; Mersmann, G; Von Figura, K	1
Dawson, G; Sung, SS; Tsay, GC	1
Farriaux, JP; Fontaine, G	1
Cole, AE; Healy, PJ	1
Brunning, RD; Desnick, RJ; Gorlin, RJ; Grabowski, GA; Ikonne, JU; Quie, PG; Sharp, HL; Sung, JH	1
Collart, M; Humbel, R	1
Dawson, G; Tsay, GC	1
Arashima, S; Ariga, S; Matsuda, I; Mitsuyama, T; Oka, Y	1
Jolly, RD; Lundblad, A; Nilsson, B; Nordén, NE; Ockerman, PA; Svensson, S	1
Jaeken, J; Kint, J; Ramaekers, VT; Stibler, H	1
Autio, S; Norden, NE; Ockerman, PA	1
Ockerman, PA	2
Autio, S; Berg, B; Hultberg, B; Ockerman, PA	1
Jolly, RD; Phillips, NC; Robinson, D; Winchester, BG	1
De Wit-Verbeek, E; Galjaard, H; Hoogeveen, A; Keijzer, W; Vlek-Noot, C	1
Eriksson, O; Hultberg, B; Ockerman, PA	1
Spranger, JW; Wiedemann, HR	2
Feleki, V; Gordon, BA	1
Bain, AD; Butterworth, J; McCrae, WM; Scott, F	1
Bach, G; Cantz, M; Eisenberg, F; Neufeld, EF	1
Robinson, D	1
Rose, IA; Warms, JV	1
Autio, S; Louhimo, T; Nordén, NE; Ockerman, PA; Rapola, J; Riekkinen, P	1
Ng-Ying-Kin, NM; Senior, RG; Wolfe, LS	1
Girard, J; Herz, G	1
Jolly, RD; Thompson, KG; Tse, CA	1
Jolly, RD; Merrall, M; Munford, RE; Thompson, KG; Tse, CA	1
Touster, O	1
Adachi, F; Phillips, MJ; Yu, DT	1
Nordén, NE; Ockerman, PA; Szabó, L	1
Jolly, RD; Lundblad, A; Nordén, NE; Ockerman, PA	1
Anakura, M; Arashima, S; Matsuda, I; Oka, Y	1
Berra, B; Brunngraber, EG; Zambotti, V	1
Autio, S; Lundblad, A; Nordén, NE; Ockerman, PA; Svensson, S	1
Autio, S; Lundblad, A; Nordén, NE; Svensson, S	1
Dawson, G; Matalon, R; Tsay, GC	1
Herman, RH	1
Brun, A; Gamstorp, I; Kjellman, B; Ockerman, PA; Palmgren, B	1
Atkins, L; Kanvfer, JN; Kolodny, EH; Littlefield, JW; Milunsky, A; Shih, VE	1
Brunngraber, EG	1
Borrone, C; Durand, P	1

Reviews

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

Article	Year
Therapies and therapeutic approaches in Congenital Disorders of Glycosylation. Glycoconjugate journal, 2013, Volume: 30, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Congenital Disorders of Glycosylation; Diet Therapy; Glycoproteins; Glycosylation; Humans; Male; Mannose; Polysaccharides	2013
[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
Screening for genetic diseases: principles and practice. Advances in veterinary science and comparative medicine, 1981, Volume: 25 Topics: Animals; Blood Coagulation Disorders; Breeding; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Cytogenetics; Dog Diseases; Dogs; Enzymes; Eye Diseases; Female; Genetic Carrier Screening; Genetic Diseases, Inborn; Genetic Testing; Male; Mannose; New Zealand; Pedigree; Porphyrias; Reference Standards	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
Disorders of phagocyte function: biochemical aspects. Progress in clinical and biological research, 1977, Volume: 13 Topics: Blood Bactericidal Activity; Carbohydrate Metabolism, Inborn Errors; Cell Movement; Chediak-Higashi Syndrome; Chemotaxis, Leukocyte; Cyclic AMP; Cyclic GMP; Granulocytes; Granulomatous Disease, Chronic; Humans; Hydrogen Peroxide; Hydrogen-Ion Concentration; Hydrolases; Leukocytes; Luminescent Measurements; Mannose; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; NADP; NADPH Oxidases; Nucleotides, Cyclic; Oxygen Consumption; Peroxidase; Phagocyte Bactericidal Dysfunction; Phagocytosis; Protein-Energy Malnutrition	1977
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
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
Prenatal genetic diagnosis. 3. The New England journal of medicine, 1970, Dec-31, Volume: 283, Issue:27 Topics: Abortion, Induced; Acid Phosphatase; Adrenal Hyperplasia, Congenital; Amnion; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Congenital Abnormalities; Counseling; Culture Techniques; Cystic Fibrosis; Economics, Medical; Ethics, Medical; Female; Fetal Diseases; Fibroblasts; Genetic Diseases, Inborn; Glycogen Storage Disease; Heterozygote; Homozygote; Humans; Lysosomes; Mannose; Marfan Syndrome; Methods; Mucopolysaccharidoses; Muscular Dystrophies; Porphyrias; Pregnancy; Punctures; Xeroderma Pigmentosum	1970

Other Studies

106 other study(ies) available for mannose and Carbohydrate Metabolism, Inborn Error

Article	Year
Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose. Pediatric hematology and oncology, 2008, Volume: 25, Issue:8 Topics: Blood Coagulation Factors; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Female; Glycosylation; Humans; Mannose; Recurrence; Thromboembolism	2008
[Fructosuria, pentosuria, mannosuria; a rare familial disorder of carbohydrate metabolism]. Klinische Wochenschrift, 1952, Nov-15, Volume: 30, Issue:43-4 Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Fructokinases; Fructose; Fructose Metabolism, Inborn Errors; Humans; Mannose; Pentoses; Sugar Alcohol Dehydrogenases; Xylulose	1952
Metformin-stimulated mannose transport in dermal fibroblasts. The Journal of biological chemistry, 2004, Mar-12, Volume: 279, Issue:11 Topics: 3-O-Methylglucose; Biological Transport; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Deoxyglucose; Dose-Response Relationship, Drug; Fibroblasts; Glucose; Glycosylation; Humans; Hypoglycemic Agents; Lipid Metabolism; Mannose; Metformin; Models, Biological; Monosaccharide Transport Proteins; Phloretin; Phlorhizin; Skin; Time Factors; Tunicamycin	2004
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Human molecular genetics, 2004, Mar-01, Volume: 13, Issue:5 Topics: Amino Acid Sequence; Carbohydrate Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; DNA Primers; Fluorescence; Genetic Complementation Test; Glucosyltransferases; Glycosylation; Humans; Mannose; Mannosyltransferases; Molecular Sequence Data; Mutation; Oligosaccharides; ortho-Aminobenzoates; Plasmids; Reverse Transcriptase Polymerase Chain Reaction; Saccharomyces cerevisiae; Sequence Alignment; Sequence Analysis, DNA	2004
Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death. Pediatric research, 2005, Volume: 58, Issue:2 Topics: Alleles; Apoptosis; Blotting, Western; Carbohydrate Metabolism, Inborn Errors; Cell Death; Cell Survival; Cells, Cultured; DNA Fragmentation; Dose-Response Relationship, Drug; Enzyme Inhibitors; Fibroblasts; Genes, Recessive; Glycosylation; Humans; Mannose; Phosphotransferases (Phosphomutases); Polysaccharides; Sensitivity and Specificity; Staurosporine; Time Factors	2005
Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality. The Journal of biological chemistry, 2006, Mar-03, Volume: 281, Issue:9 Topics: Adenosine Triphosphate; Animals; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Embryo Loss; Embryo, Mammalian; Female; Fibroblasts; Gene Targeting; Genotype; Gestational Age; Hexokinase; Humans; Male; Mannose; Mannose-6-Phosphate Isomerase; Mannosephosphates; Mice; Mice, Knockout; Polysaccharides; Pregnancy	2006
Development of liver disease despite mannose treatment in two patients with CDG-Ib. Molecular genetics and metabolism, 2008, Volume: 93, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Disease Progression; Female; Follow-Up Studies; Glycosylation; Humans; Liver; Liver Diseases; Mannose; Treatment Failure	2008
Communicating hydrocephalus and lysosomal inclusions in mannosidosis. Archives of neurology, 1984, Volume: 41, Issue:7 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Humans; Hydrocephalus; Inclusion Bodies; Lysosomes; Male; Mannose	1984
The storage products in genetic and swainsonine-induced human mannosidosis. The Biochemical journal, 1983, Dec-01, Volume: 215, Issue:3 Topics: Alkaloids; alpha-Mannosidase; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Child; Chromatography, Thin Layer; Fibroblasts; Glycoproteins; Humans; Lysosomes; Mannose; Mannosidases; Oligosaccharides; Swainsonine	1983
Reactivating factors of human alpha-mannosidase mutant. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 1983, Volume: 37, Issue:4 Topics: alpha-Mannosidase; Carbohydrate Metabolism, Inborn Errors; Cations; Chemical Phenomena; Chemistry; Dialysis; Edetic Acid; Enzyme Reactivators; Female; Fetus; Humans; Liver; Mannose; Mannosidases; Mutation; Pregnancy	1983
Role of alpha-D-mannosidases in the biosynthesis and catabolism of glycoproteins. Biochemical Society transactions, 1984, Volume: 12, Issue:3 Topics: Alkaloids; alpha-Mannosidase; Animals; Carbohydrate Metabolism, Inborn Errors; Glycoproteins; Guinea Pigs; Humans; Hydrogen-Ion Concentration; Isoenzymes; Mannose; Mannosidases; Rats; Sheep; Swainsonine	1984
Bilateral destructive synovitis associated with alpha mannosidase deficiency. The American journal of surgical pathology, 1983, Volume: 7, Issue:5 Topics: Adolescent; alpha-Mannosidase; Ankle; Carbohydrate Metabolism, Inborn Errors; Cartilage; Female; Humans; Mannose; Mannosidases; Microscopy, Electron; Oligosaccharides; Pseudopodia; Synovial Membrane; Synovitis; Vacuoles	1983
Beta-mannosidosis: lesions of the distal peripheral nervous system. Acta neuropathologica, 1983, Volume: 61, Issue:2 Topics: Animals; Axons; Carbohydrate Metabolism, Inborn Errors; Female; Goats; Male; Mannose; Mannosidases; Microscopy, Electron; Myelin Sheath; Peripheral Nerves; Schwann Cells	1983
Distribution of central nervous system lesions in beta-mannosidosis. Acta neuropathologica, 1983, Volume: 62, Issue:1-2 Topics: Animals; Brain Stem; Carbohydrate Metabolism, Inborn Errors; Central Nervous System; Cerebellum; Female; Globus Pallidus; Goats; Lysosomes; Mannose; Vacuoles	1983
The catabolism of mammalian glycoproteins. Comparison of the storage products in bovine, feline and human mannosidosis. The Biochemical journal, 1983, Dec-01, Volume: 215, Issue:3 Topics: alpha-Mannosidase; Animals; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Cat Diseases; Cats; Cattle; Cattle Diseases; Chromatography, Gel; Chromatography, Thin Layer; Female; Gas Chromatography-Mass Spectrometry; Glycoproteins; Humans; Mannose; Mannosidases; Oligosaccharides	1983
Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation. Clinical genetics, 1984, Volume: 25, Issue:3 Topics: Adolescent; alpha-Mannosidase; Carbohydrate Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Female; Fibroblasts; Humans; Mannose; Mannosidases; Oligosaccharides; Phenotype; Skin	1984
Caprine beta-mannosidosis: clinical and pathological features. Journal of neuropathology and experimental neurology, 1983, Volume: 42, Issue:3 Topics: Animals; Brain; Carbohydrate Metabolism, Inborn Errors; Female; Goats; Male; Mannose; Mannosidases; Pedigree; Syndrome	1983
Pancytopenia in mannosidosis. Archives of internal medicine, 1983, Volume: 143, Issue:6 Topics: Adult; Blood Platelets; Bone Marrow Examination; Carbohydrate Metabolism, Inborn Errors; Haptoglobins; Humans; Male; Mannose; Mannosidases; Neutrophils; Pancytopenia	1983
Heterogeneity of urinary oligosaccharides from mannosidosis: mass spectrometric analysis of permethylated Man9, Man8, and Man7 derivatives. Archives of biochemistry and biophysics, 1982, Volume: 213, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Humans; Isomerism; Mannose; Mass Spectrometry; Oligosaccharides	1982
Apparently normal extracellular acidic alpha-mannosidase in fibroblast cultures from patients with mannosidosis. American journal of human genetics, 1982, Volume: 34, Issue:1 Topics: alpha-Mannosidase; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Culture Media; Fibroblasts; Hot Temperature; Humans; Kinetics; Lysosomes; Mannose; Mannosidases; Mutation	1982
Mannosidosis in an adult. The Johns Hopkins medical journal, 1982, Volume: 151, Issue:3 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Humans; Lymphocytes; Male; Mannose; Oligosaccharides	1982
Two model lysosomal storage diseases. Progress in clinical and biological research, 1982, Volume: 94 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Ceroid; Disease Models, Animal; Lipid Metabolism, Inborn Errors; Lipofuscin; Mannose; Sheep; Sheep Diseases	1982
Caprine beta-mannosidosis. Progress in clinical and biological research, 1982, Volume: 94 Topics: Animals; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Disease Models, Animal; Female; Goats; Kidney; Male; Mannose; Mannosidases	1982
The clinical course of mannosidosis. Annals of clinical research, 1982, Volume: 14, Issue:2 Topics: Bone Development; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Female; Follow-Up Studies; Hearing Loss, Sensorineural; Humans; Infant; Intellectual Disability; Male; Mannose; Maxillofacial Development; Movement Disorders; Speech Disorders	1982
Mannosidosis in two brothers: prolonged survival in the severe phenotype. Clinical genetics, 1982, Volume: 22, Issue:5 Topics: Adult; Age Factors; alpha-Mannosidase; Carbohydrate Metabolism, Inborn Errors; Humans; Joints; Male; Mannose; Mannosidases; Phenotype	1982
Serum and urinary trisaccharides in mannosidosis. Neurology, 1981, Volume: 31, Issue:9 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Humans; Male; Mannose; Oligosaccharides; Trisaccharides	1981
Alterations in neuron morphology in feline mannosidosis. A Golgi study. Acta neuropathologica, 1981, Volume: 53, Issue:1 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cat Diseases; Cats; Cerebellum; Cerebral Cortex; Female; Mannose; Mannosidases; Neurons; Purkinje Cells	1981
Biochemical studies on a case of feline mannosidosis. The Biochemical journal, 1980, Sep-01, Volume: 189, Issue:3 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cat Diseases; Cats; Chromatography, DEAE-Cellulose; Female; Hydrogen-Ion Concentration; Lysosomes; Mannose; Mannosidases; Oligosaccharides	1980
Mannosidosis: isolation and comparison of mannose-containing oligosaccharides from gingiva and urine. European journal of biochemistry, 1981, Volume: 114, Issue:2 Topics: Acetylglucosamine; Adult; Carbohydrate Metabolism, Inborn Errors; Chromatography, Thin Layer; Gingiva; Humans; Male; Mannose; Mannosidases; Oligosaccharides	1981
Oligosaccharides accumulated in the kidney of a goat with beta-mannosidosis: mass spectrometry of intact permethylated derivatives. Archives of biochemistry and biophysics, 1981, Oct-01, Volume: 211, Issue:1 Topics: Animal Diseases; Animals; Carbohydrate Metabolism, Inborn Errors; Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Goats; Kidney; Mannose; Mass Spectrometry; Oligosaccharides	1981
Mannosidosis: two brothers with different degrees of disease severity. Clinical genetics, 1981, Volume: 20, Issue:3 Topics: Abnormalities, Multiple; Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Humans; Intellectual Disability; Male; Mannose	1981
Complete structure elucidation of a trisaccharide from a patient with mannosidosis by carbon-13 nuclear magnetic resonance spectrometry. Archives of biochemistry and biophysics, 1981, Volume: 212, Issue:2 Topics: Acetylglucosamine; Carbohydrate Conformation; Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Humans; Magnetic Resonance Spectroscopy; Mannose; Oligosaccharides	1981
The nature of mannose-containing material which accumulates in cultured fibroblasts from patients with mannosidosis. Biochimica et biophysica acta, 1980, Feb-07, Volume: 627, Issue:3 Topics: Acetylglucosamine; Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Fibroblasts; Humans; Mannose; Mannosidases; Oligosaccharides	1980
Comparison of the residual acidic alpha-D-mannosidase in three cases of mannosidosis. Clinica chimica acta; international journal of clinical chemistry, 1980, Jun-10, Volume: 104, Issue:2 Topics: alpha-Mannosidase; Carbohydrate Metabolism, Inborn Errors; Chromatography; Chromatography, DEAE-Cellulose; Cobalt; Humans; Mannose; Mannosidases; Zinc	1980
Mannosidosis: patterns of storage and urinary excretion of oligosaccharides in the bovine model. The Australian journal of experimental biology and medical science, 1980, Volume: 58, Issue:4 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cattle; Chromatography, Gas; Chromatography, Gel; Disease Models, Animal; Mannose; Oligosaccharides; Tissue Distribution	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
Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly. The Journal of clinical investigation, 2000, Volume: 105, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Fungal Proteins; Glycosylation; Humans; Mannose; Mannosyltransferases; Membrane Proteins; Molecular Sequence Data; Oligosaccharides; Protein Processing, Post-Translational; Saccharomyces cerevisiae Proteins	2000
Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG). Glycobiology, 2000, Volume: 10, Issue:8 Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; Glycosylation; Guanosine Diphosphate Mannose; Humans; Mannose; Mannosyltransferases	2000
Saving lives with sugar. Science (New York, N.Y.), 2001, Mar-23, Volume: 291, Issue:5512 Topics: Carbohydrate Metabolism, Inborn Errors; Child; Clinical Trials as Topic; Glycosylation; Humans; Male; Mannose; Mannose-6-Phosphate Isomerase; Mannosephosphates	2001
Specificity studies on alpha-mannosidases using oligosaccharides from mannosidosis urine as substrates. Biochimica et biophysica acta, 1975, Nov-20, Volume: 410, Issue:1 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cattle; Disaccharidases; Humans; Hydrogen-Ion Concentration; Kinetics; Liver; Mannose; Mannosidases; Oligosaccharides; Species Specificity	1975
Mannosidosis: clinical and biochemical findings. Birth defects original article series, 1975, Volume: 11, Issue:6 Topics: Carbohydrate Metabolism, Inborn Errors; Child; Fibroblasts; Humans; Hydrogen-Ion Concentration; Leukocytes; Male; Mannose; Mannosidases	1975
Bovine mannosidosis--a model lysosomal storage disease. Birth defects original article series, 1975, Volume: 11, Issue:6 Topics: Animals; Blood; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Disease Models, Animal; Heterozygote; Hydrogen-Ion Concentration; Lymphocytes; Lysosomes; Mannose; Mannosidases	1975
Mannosidosis of Angus Cattle: a prototype control program for some genetic diseases. Advances in veterinary science and comparative medicine, 1975, Volume: 19 Topics: Animals; Ataxia; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Disease Models, Animal; Female; Genotype; Glycoproteins; Heterozygote; Hydrogen-Ion Concentration; Isoenzymes; Lysosomes; Male; Mannose; Mannosidases; Movement Disorders; Mutation; Neurons	1975
Mannosidosis. New clinical presentation, enzyme studied, and carbohydrate analysis. Archives of neurology, 1977, Volume: 34, Issue:1 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Child; Disaccharidases; Galactose; Gingiva; Gingival Hyperplasia; Glucosamine; Humans; Hydrogen-Ion Concentration; Male; Mannose; Mannosidases	1977
Measurement of the alpha-mannosidase activities in human plasma by a differential assay. Clinica chimica acta; international journal of clinical chemistry, 1977, Dec-01, Volume: 81, Issue:2 Topics: Adolescent; Adult; Age Factors; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Cobalt; Female; Genotype; Hot Temperature; Humans; Hydrogen-Ion Concentration; Infant; Kinetics; Male; Mannose; Mannosidases; Methods; Sex Factors; Zinc	1977
Lysosomal glycosidase activities in human hair roots. Clinica chimica acta; international journal of clinical chemistry, 1978, Feb-01, Volume: 83, Issue:1-2 Topics: alpha-L-Fucosidase; Carbohydrate Metabolism, Inborn Errors; Glycoside Hydrolases; Hair; Hexosaminidases; Humans; Hydrogen-Ion Concentration; Lysosomes; Mannose; Mannosidases; Methods	1978
Alpha-mannosidase in human red cells. Biochimica et biophysica acta, 1979, Jan-12, Volume: 566, Issue:1 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Electrophoresis; Erythrocytes; Humans; Hydrogen-Ion Concentration; Lysosomes; Mannose; Mannosidases; Rabbits; Tissue Distribution	1979
Evidence that the mutant enzyme in fibroblasts of a patient with mannosidosis does not crossreact with antiserum raised against normal acidic alpha-D-mannosidase. FEBS letters, 1978, Jul-15, Volume: 91, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Fibroblasts; Humans; Immune Sera; Immunodiffusion; Liver; Mannose; Mannosidases; Precipitin Tests; Skin	1978
[Glycoproteins and glycoproteinosis]. Biochimie, 1979, Volume: 61, Issue:11-12 Topics: Asparagine; Carbohydrate Conformation; Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Chondroitin Sulfates; Glycoproteins; Humans; Hydrolases; Lysosomes; Mannose; Models, Molecular; Oligosaccharides; Protein Binding; Protein Conformation; Sialic Acids	1979
Mannosidosis and its control in Angus and Murray Grey cattle. New Zealand veterinary journal, 1978, Volume: 26, Issue:8 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Female; Genetic Carrier Screening; Male; Mannose; New Zealand	1978
Apparent discrepancy between the insulin secretory responses in vivo and in vitro in carbohydrate-intolerant Sand rats. Diabetologia, 1979, Volume: 17, Issue:6 Topics: Animals; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Female; Glucose; Glyceraldehyde; Insulin; Insulin Secretion; Islets of Langerhans; Kinetics; Male; Mannose; Rats; Theophylline	1979
Lysosomal enzymes in medium from cultured skin fibroblasts from normal individuals and patients with lysosomal diseases. Clinica chimica acta; international journal of clinical chemistry, 1977, Oct-01, Volume: 80, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Fabry Disease; Fibroblasts; Humans; In Vitro Techniques; Lipidoses; Lysosomes; Mannose; Metabolism, Inborn Errors; Mucolipidoses; Mucopolysaccharidosis I; Skin	1977
Histomorphologic and histochemical investigations in mannosidosis. A light and electron microscopic study. Virchows Archiv. B, Cell pathology, 1977, Dec-30, Volume: 26, Issue:2 Topics: Biopsy, Needle; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Humans; Liver; Lymphocytes; Lysosomes; Mannose; Mannosidases; Microscopy, Electron; Vacuoles	1977
The multiple forms of alpha-D-mannosidase in human plasma. The Biochemical journal, 1979, Jun-01, Volume: 179, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Chromatography, Agarose; Chromatography, DEAE-Cellulose; Chromatography, Gel; Concanavalin A; Humans; Isoenzymes; Liver; Mannose; Mannosidases	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
Mannosidosis of Angus calves. Journal of the American Veterinary Medical Association, 1979, Sep-01, Volume: 175, Issue:5 Topics: Animals; Brain; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Female; Heterozygote; Lymph Nodes; Male; Mannose; Mannosidases	1979
[Mannosidosis. Comments from one case (author's transl)]. Neuropsychiatrie de l'enfance et de l'adolescence, 1979, Volume: 27, Issue:12 Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Humans; Male; Mannose	1979
Mannosidosis. Clinical and biochemical study. Archives of disease in childhood, 1977, Volume: 52, Issue:12 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Fibroblasts; Humans; Leukocytes; Male; Mannose; Mannosidases; Oligosaccharides	1977
[Mannosidosis: diagnosis by conjunctival biopsy and enzymatic analysis of the tears]. Bulletins et memoires de la Societe francaise d'ophtalmologie, 1977, Volume: 89 Topics: Adolescent; Adult; Biopsy; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Conjunctiva; Female; Humans; Hydrolases; Infant; Male; Mannose; Mannosidases; Tears	1977
The pathology of bovine mannosidosis. Veterinary pathology, 1978, Volume: 15, Issue:2 Topics: Animals; Brain; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Liver; Lymph Nodes; Mannose; Pancreas	1978
Improved thin-layer chromatographic method in the diagnosis of mannosidosis. Clinical chemistry, 1978, Volume: 24, Issue:9 Topics: Carbohydrate Metabolism, Inborn Errors; Chromatography, Thin Layer; Humans; Mannose; Mannosidases; Oligosaccharides	1978
[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
Characterization of the mutant alpha-mannosidase in bovine mannosidosis. The Biochemical journal, 1978, Dec-01, Volume: 175, Issue:3 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cations, Divalent; Cattle; Chromatography, Agarose; Female; Isoelectric Focusing; Liver; Mannose; Mannosidases; Mutation	1978
[Mannosidosis (apropos of 5 cases)]. Lille medical : journal de la Faculte de medecine et de pharmacie de l'Universite de Lille, 1977, Volume: 22, Issue:1 Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Disaccharidases; Female; Humans; Infant; Male; Mannose; Mannosidases; Pedigree	1977
[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
Ocular findings in mannosidosis. American journal of ophthalmology, 1976, Volume: 82, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Cataract; Child, Preschool; Conjunctiva; Eye Manifestations; Female; Humans; Male; Mannose; Mannosidases	1976
Storage of mannose-containing material in cultured human mannosidosis cells and metabolic correction by pig kidney alpha-mannosidase. Hoppe-Seyler's Zeitschrift fur physiologische Chemie, 1976, Volume: 357, Issue:5 Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Disaccharidases; Fibroblasts; Humans; Kinetics; Mannose; Mannosidases	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
[Mannosidosis: a simple diagnosis]. Archives francaises de pediatrie, 1976, Volume: 33, Issue:1 Topics: Adolescent; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Craniosynostoses; Disaccharidases; Face; Female; Humans; Infant; Intellectual Disability; Lumbar Vertebrae; Male; Mannose; Mannosidases	1976
Heterozygotes for mannosidosis in Angus and Murray Grey cattle. Australian veterinary journal, 1976, Volume: 52, Issue:8 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Female; Heterozygote; Male; Mannose	1976
Mannosidosis: clinical, morphologic, immunologic, and biochemical studies. Pediatric research, 1976, Volume: 10, Issue:12 Topics: Carbohydrate Metabolism, Inborn Errors; Chemotaxis, Leukocyte; Child, Preschool; Cobalt; Disaccharidases; Female; Homozygote; Humans; Isoenzymes; Liver; Lymphocyte Activation; Lysosomes; Manganese; Mannose; Mannosidases; Zinc	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
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
A urinary pentasaccharide in bovine mannosidosis. European journal of biochemistry, 1975, Nov-15, Volume: 59, Issue:2 Topics: Acetylglucosamine; Animals; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Magnetic Resonance Spectroscopy; Mannose; Mannosides; Oligosaccharides	1975
A new variant of the carbohydrate deficient glycoproteins syndrome. Journal of inherited metabolic disease, 1991, Volume: 14, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Electromyography; Evoked Potentials; Female; Galactosemias; Glycoproteins; Hexosamines; Humans; Infant; Isoelectric Focusing; Liver; Magnetic Resonance Imaging; Mannose; Sialic Acids; Transferrin	1991
Diagnosis of mannosidosis. Lancet (London, England), 1973, Jan-27, Volume: 1, Issue:7796 Topics: Carbohydrate Metabolism, Inborn Errors; Child; Female; Humans; Male; Mannose	1973
Diseases of glycoprotein storage. Lancet (London, England), 1969, Apr-05, Volume: 1, Issue:7597 Topics: Brain; Carbohydrate Metabolism, Inborn Errors; Glucosamine; Glycosaminoglycans; Glycoside Hydrolases; Humans; Lipidoses; Liver; Mannose; Mucopolysaccharidoses	1969
White blood cell acid hydrolases in leukaemias, mucopolysaccharidoses and mannosidosis. Scandinavian journal of haematology, 1973, Volume: 10, Issue:4 Topics: Adolescent; Adult; Aged; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gel; Female; Galactosidases; Glucosidases; Glucuronidase; Glycoside Hydrolases; Hexosaminidases; Humans; Hydrogen-Ion Concentration; Isoelectric Focusing; Leukemia, Lymphoid; Leukemia, Myeloid; Leukemia, Myeloid, Acute; Leukocytes; Male; Mannose; Methods; Middle Aged; Mucopolysaccharidoses	1973
Mannosidosis in Angus cattle. The enzymic defect. The Biochemical journal, 1974, Volume: 137, Issue:2 Topics: Animals; Brain; Carbohydrate Metabolism, Inborn Errors; Cattle; Chromatography, DEAE-Cellulose; Chromatography, Gel; Chromatography, Ion Exchange; Cobalt; Edetic Acid; Electrophoresis, Starch Gel; Glycoside Hydrolases; Hydrogen-Ion Concentration; Isoenzymes; Kidney; Liver; Lymph Nodes; Lysosomes; Manganese; Mannose; Molecular Weight; Organ Specificity; Spectrometry, Fluorescence; Spleen; Zinc	1974
The use of quantiatative cytochemical analyses in rapid prenatal detection and somatic cell genetic studies of metabolic diseases. The Histochemical journal, 1974, Volume: 6, Issue:5 Topics: Amniocentesis; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Fabry Disease; Female; Galactosidases; Glucosephosphate Dehydrogenase; Glucosephosphate Dehydrogenase Deficiency; Glucosidases; Glycogen Storage Disease; Glycoside Hydrolases; Hexosaminidases; Histocytochemistry; Humans; Hybrid Cells; Mannose; Microchemistry; Pregnancy; Spectrometry, Fluorescence; Uronic Acids	1974
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
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
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
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proceedings of the National Academy of Sciences of the United States of America, 1973, Volume: 70, Issue:7 Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; Galactose; Glucosamine; Glucuronidase; Glycosaminoglycans; Glycosides; Humans; Iduronic Acid; Intellectual Disability; Mannose; Mucopolysaccharidosis II; Retinitis Pigmentosa; Skin; Sulfatases; Sulfur Isotopes; Sulfuric Acids; Tritium; Uronic Acids	1973
Glucose- and mannose-1,6-P2 as activators of phosphofructokinase in red blood cells. Biochemical and biophysical research communications, 1974, Aug-19, Volume: 59, Issue:4 Topics: Alkalosis; Arabinose; Carbohydrate Metabolism, Inborn Errors; Chromatography, Ion Exchange; Enzyme Activation; Erythrocytes; Glucosephosphates; Glyceraldehyde-3-Phosphate Dehydrogenases; Hexosediphosphates; Humans; Hydrogen-Ion Concentration; In Vitro Techniques; Iodoacetates; Kinetics; Liver Diseases; Mannose; Phosphofructokinase-1; Pyruvate Kinase; Ribose; Sugar Alcohols	1974
Mannosidosis: clinical, fine-structural and biochemical findings in three cases. Acta paediatrica Scandinavica, 1973, Volume: 62, Issue:6 Topics: Abnormalities, Multiple; Acid Phosphatase; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Child, Preschool; Chromatography, Gel; Corneal Opacity; Face; Galactosidases; Glucuronidase; Hexosaminidases; Humans; Inclusion Bodies; Intellectual Disability; Leukocyte Count; Liver; Lymphocytes; Male; Mannose; Microscopy, Electron	1973
The structures of oligosaccharides accumulating in the liver of G-M1-gangliosidosis, type I. The Journal of biological chemistry, 1974, Mar-25, Volume: 249, Issue:6 Topics: Acetamides; Carbohydrate Metabolism, Inborn Errors; Chromatography, Gas; Galactose; Gangliosides; Glucosamine; Glycoside Hydrolases; Hexosamines; Hexoses; Humans; Isotope Labeling; Liver; Magnetic Resonance Spectroscopy; Mannose; Mass Spectrometry; Methylation; Molecular Weight; Oligosaccharides; Periodic Acid; Spectrophotometry, Infrared; Stereoisomerism; Tritium	1974
Some aspects of hypoglycemia in pediatrics. Israel journal of medical sciences, 1972, Volume: 8, Issue:6 Topics: Acids; Age Factors; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Glutamine; Glycogen Storage Disease; Hexoses; Humans; Hypoglycemia; Infant, Newborn; Infant, Newborn, Diseases; Injections, Intravenous; Insulin; Mannose	1972
Evaluation of a screening programme for identification of mannosidosis heterozygotes in Angus cattle. New Zealand veterinary journal, 1974, Volume: 22, Issue:10 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Clinical Enzyme Tests; Evaluation Studies as Topic; Female; Glycoside Hydrolases; Glycosides; Heterozygote; Male; Mannose	1974
Identification of mannosidosis heterozygotes--factors affecting normal plasma alpha-mannosidase levels. New Zealand veterinary journal, 1974, Volume: 22, Issue:9 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Female; Fluorometry; Glycoside Hydrolases; Heterozygote; Male; Mannose; Pregnancy	1974
An ultrastructural study of fructose-induced hepatic cell injury. Comparison of human and experimental lesions. Virchows Archiv. B, Cell pathology, 1972, Volume: 10, Issue:3 Topics: Animals; Biopsy; Carbohydrate Metabolism, Inborn Errors; Chemical and Drug Induced Liver Injury; Disease Models, Animal; Endoplasmic Reticulum; Fructose; Galactose; Glucose; Glycogen; Golgi Apparatus; Humans; Liver; Liver Diseases; Male; Mannitol; Mannose; Microscopy; Microscopy, Electron; Rats; Rats, Inbred Strains; Ribosomes	1972
Urinary mannose in mannosidosis. The Journal of pediatrics, 1973, Volume: 82, Issue:4 Topics: Acid Phosphatase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography; Female; Galactosidases; Glucosidases; Glucuronidase; Glycoside Hydrolases; Hexosaminidases; Humans; Liver; Lysosomes; Mannose; Monosaccharides; Mucopolysaccharidoses	1973
Mannosidosis in Angus cattle: partial characterization of two mannose containing oligosaccharides. FEBS letters, 1973, Sep-15, Volume: 35, Issue:2 Topics: Animals; Brain; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Chromatography, Gel; Chromatography, Ion Exchange; Chromatography, Paper; Glucosamine; Heterozygote; Humans; Mannose; Oligosaccharides; Optical Rotation; Ultrafiltration	1973
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
A mannose-containing trisaccharide isolated from urines of three patients with mannosidosis. The Journal of biological chemistry, 1973, Sep-10, Volume: 248, Issue:17 Topics: Acetates; Carbohydrate Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Chromatography, Gas; Chromatography, Gel; Chromatography, Paper; Chromium; Concanavalin A; Deuterium; Hexosamines; Hexoses; Humans; Mannose; Mass Spectrometry; Methyl Ethers; Methylation; Nitrogen; Oligosaccharides; Oxidation-Reduction; Oxides; Sugar Alcohols	1973
Animal model of human disease: mannosidosis of children, other inherited lysosomal storage diseases. The American journal of pathology, 1974, Volume: 74, Issue:1 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Cattle; Cattle Diseases; Child; Disease Models, Animal; Female; Genotype; Glycosides; Humans; Male; Mannose	1974
Characterization of two mannose-containing oligosaccharides isolated from the urine of patients with mannosidosis. Biochemistry, 1974, Feb-26, Volume: 13, Issue:5 Topics: Acetamides; Carbohydrate Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Chromatography, Gel; Chromatography, Paper; Electrophoresis; Glucose; Glycoside Hydrolases; Humans; Mannose; Methylation; Oligosaccharides; Plants; Pyrans	1974
Excretion of mannose-rich complex carbohydrates by a patient with alpha-mannosidase deficiency (mannosidosis). The Journal of pediatrics, 1974, Volume: 84, Issue:6 Topics: Carbohydrate Metabolism, Inborn Errors; Chromatography, Gel; Glycoside Hydrolases; Homozygote; Humans; Infant; Lysosomes; Male; Mannose; Monosaccharides; Urine	1974
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
Mannosidosis: a clinical and histopathologic study. The Journal of pediatrics, 1969, Volume: 75, Issue:3 Topics: Bone Marrow Cells; Brain; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; Glucosamine; Glycoside Hydrolases; Humans; Infant; Liver; Lymph Nodes; Male; Mannose; Mucopolysaccharidoses; Radiography	1969
[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