Page last updated: 2024-08-22

glucosamine and Metabolism, Inborn Errors

glucosamine has been researched along with Metabolism, Inborn Errors in 22 studies

Research

Studies (22)

TimeframeStudies, this research(%)All Research%
pre-199021 (95.45)18.7374
1990's1 (4.55)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Autio, S; Härö, E; Kivimäki, T; Koskela, SL; Näntö, V; Näntö-Salonen, K; Penttinen, R1
Maury, CP1
Isenberg, JN; Sharp, HL1
Dawson, G; Tsay, GC1
Aula, P; Funakoshi, I; Funakoshi, S; Sugahara, K; Yamashina, I1
Arvio, M; Autio, S; Humaloja, K; Palo, J; Salaspuro, M; Salmela, K1
Höfler, G; Paschke, E; Roscher, A1
Alfthan, G; Halme, T; Langevelde, FV; Näntö-Salonen, K; Penttinen, R; Vis, RD1
Aalto, M; Kivimäki, T; Larjava, H; Näntö-Salonen, K1
Aula, P; Karjalainen, O1
Georgescu, M; Ionescu, V; Radu, A; Radu, H1
Jenner, FA; Merskey, H; Pollitt, RJ1
Autio, S; Järvinen, H; Visakorpi, JK1
Palo, J; Savolainen, H2
Aula, P; Autio, S; Näntö, V1
Pollitt, RJ; Pretty, KM1
Aula, P; Autio, S; Laipio, ML; Näntö, V1
Autio, S; Palo, J2
Buss, EG; Clagett, CO; Farrell, HM; Mallette, MF1
Mattsson, K; Palo, J1

Reviews

1 review(s) available for glucosamine and Metabolism, Inborn Errors

ArticleYear
Aspartylglycosaminuria: an inborn error of glycoprotein catabolism.
    Journal of inherited metabolic disease, 1982, Volume: 5, Issue:4

    Topics: Acetylglucosamine; Brain; Glucosamine; Glycoproteins; Humans; Liver; Metabolism, Inborn Errors

1982

Other Studies

21 other study(ies) available for glucosamine and Metabolism, Inborn Errors

ArticleYear
Metabolism of collagen in aspartylglycosaminuria: urinary excretion of hydroxyproline.
    Journal of inherited metabolic disease, 1984, Volume: 7, Issue:3

    Topics: Acetylglucosamine; Adolescent; Adult; Age Factors; Child; Child, Preschool; Collagen; Connective Tissue Diseases; Female; Glucosamine; Humans; Hydroxyproline; Infant; Intellectual Disability; Male; Metabolism, Inborn Errors; Middle Aged; Reference Values

1984
Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis.
    The Journal of pediatrics, 1975, Volume: 86, Issue:5

    Topics: Amidohydrolases; Aminoglycosides; Aspartic Acid; Child, Preschool; Chromatography, Thin Layer; Cleidocranial Dysplasia; Diagnosis, Differential; Facial Expression; Female; Glucosamine; Hepatomegaly; Humans; Joint Diseases; Leukocytes; Lymphocytes; Mass Screening; Metabolism, Inborn Errors; Mucopolysaccharidoses; Psychomotor Disorders; Splenomegaly; Vacuoles

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
Characterization of two glycoasparagines isolated from the urine of patients with aspartylglycosylaminuria (AGU).
    Journal of biochemistry, 1975, Volume: 78, Issue:4

    Topics: Amidohydrolases; Asparagine; Aspartylglucosaminuria; Galactose; Galactosidases; Glucosamine; Metabolism, Inborn Errors; Neuraminidase; Sialic Acids

1975
Elevated levels of serum dolichol in aspartylglucosaminuria.
    Life sciences, 1990, Volume: 47, Issue:7

    Topics: Acetylglucosamine; Adult; alpha-Mannosidosis; Dolichols; Female; Glucosamine; Humans; Male; Metabolism, Inborn Errors; Middle Aged

1990
The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:1

    Topics: Fibroblasts; Glucosamine; Humans; Infant; Male; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Sialic Acids; Uridine Diphosphate N-Acetylglucosamine; Uridine Diphosphate Sugars

1987
Disturbed metabolism of copper and zinc in aspartylglycosaminuria: possible involvement with connective tissue changes.
    Journal of inherited metabolic disease, 1985, Volume: 8, Issue:4

    Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartylglucosaminuria; Cells, Cultured; Child; Copper; Female; Fibroblasts; Glucosamine; Hair; Humans; Male; Metabolism, Inborn Errors; Zinc

1985
Urinary glycosaminoglycans in aspartylglycosaminuria: evidence for disturbed proteoglycan metabolism.
    Clinica chimica acta; international journal of clinical chemistry, 1985, Mar-15, Volume: 146, Issue:2-3

    Topics: Acetylglucosamine; Adolescent; Adult; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Electrophoresis, Cellulose Acetate; Female; Glucosamine; Glycoproteins; Glycosaminoglycans; Humans; Male; Metabolism, Inborn Errors

1985
Prenatal karyotype analysis in high risk families.
    Annals of clinical research, 1973, Volume: 5, Issue:3

    Topics: Aminohydrolases; Amniocentesis; Amniotic Fluid; Aspartic Acid; Cells, Cultured; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; Chromosomes, Human, 19-20; Chromosomes, Human, 21-22 and Y; Female; Glucosamine; Humans; Karyotyping; Maternal Age; Metabolism, Inborn Errors; Middle Aged; Pregnancy; Prenatal Diagnosis; Staining and Labeling; Trisomy

1973
A new metabolic disorder: myopathy with glycosamino(sialo)glycans accumulation.
    European neurology, 1974, Volume: 12, Issue:4

    Topics: Adenosine Triphosphatases; Adolescent; Glucosamine; Glycogen; Glycosaminoglycans; Hexosamines; Hexoses; Humans; Lyases; Male; Metabolism, Inborn Errors; Microscopy, Electron; Muscles; Muscular Dystrophies; Myofibrils; Neuraminic Acids; Neuraminidase; Periodic Acid; Proteins; Schiff Bases; Staining and Labeling; Uronic Acids

1974
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
    Lancet (London, England), 1968, Aug-03, Volume: 2, Issue:7562

    Topics: Adult; Asparagine; Aspartic Acid; Female; Glucosamine; Glucosidases; Glycoproteins; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Oligosaccharides; Peptide Hydrolases

1968
Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients.
    Annals of clinical research, 1973, Volume: 5, Issue:3

    Topics: Adolescent; Adult; Amidohydrolases; Aspartic Acid; Bone Marrow; Child; Child, Preschool; Consanguinity; Face; Female; Finland; Genes, Recessive; Glucosamine; Homozygote; Humans; Inclusion Bodies; Infant; Infant, Newborn; Intellectual Disability; Lymphocytes; Male; Metabolism, Inborn Errors; Osteochondritis; Radiography; Syndrome

1973
Biochemical diagnosis of aspartylglycosaminuria.
    Annals of clinical research, 1973, Volume: 5, Issue:3

    Topics: Adult; Amidohydrolases; Aspartic Acid; Brain Chemistry; Chromatography, Thin Layer; Copper; Female; Gangliosides; Glucosamine; Glycoproteins; Glycosaminoglycans; Humans; Inclusion Bodies; Kidney; Liver; Lymphocytes; Male; Metabolism, Inborn Errors; Myelin Sheath; Nerve Tissue Proteins; Nickel; Oligosaccharides

1973
Cultured skin fibroblasts in disorders of glycoprotein catabolism and I-cell disease.
    Developmental medicine and child neurology, 1974, Volume: 16, Issue:3

    Topics: Amidohydrolases; Aspartic Acid; Cells, Cultured; Clinical Enzyme Tests; Diagnosis, Differential; Fibroblasts; Galactosidases; Glucosamine; Glucosidases; Glycoproteins; Glycoside Hydrolases; Heterozygote; Hexosaminidases; Humans; Lysosomes; Mannose; Metabolism, Inborn Errors; Skin; Sulfatases

1974
The glycoasparagines in urine of a patient with aspartylglycosaminuria.
    The Biochemical journal, 1974, Volume: 141, Issue:1

    Topics: Asparagine; Aspartic Acid; Chromatography, Gas; Chromatography, Gel; Chromatography, Ion Exchange; Electrophoresis, Paper; Female; Glucosamine; Glycopeptides; Glycosuria; Humans; Hydrogen-Ion Concentration; Metabolism, Inborn Errors; Models, Chemical

1974
The biochemistry of aspartylglycosaminurias.
    Acta neurologica Scandinavica. Supplementum, 1972, Volume: 51

    Topics: Amidohydrolases; Aspartic Acid; Glucosamine; Humans; Metabolism, Inborn Errors

1972
Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents.
    Clinical genetics, 1973, Volume: 4, Issue:3

    Topics: Amidohydrolases; Aspartic Acid; Cells, Cultured; Chromatography, Ion Exchange; Chromatography, Paper; Female; Fibroblasts; Glucosamine; Heterozygote; Humans; Male; Metabolism, Inborn Errors

1973
Picture of the Month. Aspartylglucosaminuria.
    American journal of diseases of children (1960), 1974, Volume: 127, Issue:4

    Topics: Adolescent; Aspartic Acid; Body Height; Child; Child, Preschool; Chromatography, Thin Layer; Chromosome Aberrations; Chromosome Disorders; Electrophoresis; Face; Female; Finland; Genes, Recessive; Glucosamine; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors

1974
[Aspartylglucosaminuria].
    Duodecim; laaketieteellinen aikakauskirja, 1972, Volume: 88, Issue:1

    Topics: Adolescent; Adult; Amidohydrolases; Aspartic Acid; Child; Child, Preschool; Female; Glucosamine; Humans; Infant; Intellectual Disability; Lysosomes; Male; Metabolism, Inborn Errors

1972
The nature of the biochemical lesion in avian renal riboflavinuria. 3. The isolation and characterization of the riboflavin-binding protein from egg albumen.
    Biochimica et biophysica acta, 1969, Dec-23, Volume: 194, Issue:2

    Topics: Amino Acids; Animals; Buffers; Carbohydrates; Cellulose; Chemical Phenomena; Chemistry; Chickens; Chromatography, Ion Exchange; Cold Temperature; Drug Stability; Electrophoresis; Female; Galactose; Genes, Recessive; Glucosamine; Homozygote; Hydrogen Peroxide; Hydrogen-Ion Concentration; Mannose; Metabolism, Inborn Errors; Methods; Molecular Weight; Mutation; Osmolar Concentration; Ovalbumin; Poultry Diseases; Protein Binding; Proteins; Riboflavin; Sulfides; Time Factors; Tryptophan; Ultracentrifugation

1969
Chromatographic isolation of 2-acetamido-1-(beta'-L-aspartamido)-1,2-dideoxy-beta-D-glucose from urine.
    Journal of chromatography, 1970, Aug-12, Volume: 50, Issue:3

    Topics: Amino Sugars; Aspartic Acid; Chromatography, Ion Exchange; Chromatography, Paper; Glucosamine; Metabolism, Inborn Errors

1970