Page last updated: 2024-08-22

mannose and Deficiency, Mental

mannose has been researched along with Deficiency, Mental in 12 studies

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-199011 (91.67)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (8.33)2.80

Authors

AuthorsStudies
Akula, SK; Attié-Bitach, T; de Brouwer, APM; Duvet, S; Fortuna, AM; Foulquier, F; Gheldof, A; Jansen, AC; Jorge, P; Lai, A; Loget, P; Maia, N; Nassogne, MC; O'Kane, K; Potelle, S; Proisy, M; Quelin, C; Schulz, C; Sermon, K; Soares, AR; Stouffs, K; Van Schaftingen, E; Walsh, CA; Wiame, E; Yildirim, H1
Autio, S; Helenius, M; Louhimo, T1
Erickson, RP; Hicks, SP; Hieber, V; Mitchell, ML; Poznanski, AK; Schmid, D1
Farriaux, JP; Fontaine, G1
Autio, S1
Eriksson, O; Hultberg, B; Ockerman, PA1
Clausen, J; Dyggve, HV; Melchior, JC1
Spranger, JW; Wiedemann, HR1
Feleki, V; Gordon, BA1
Bach, G; Cantz, M; Eisenberg, F; Neufeld, EF1
Autio, S; Louhimo, T; Nordén, NE; Ockerman, PA; Rapola, J; Riekkinen, P1
Den Tandt, WR; Lassila, E; Philippart, M1

Reviews

1 review(s) available for mannose and Deficiency, Mental

ArticleYear
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

Other Studies

11 other study(ies) available for mannose and Deficiency, Mental

ArticleYear
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
    American journal of human genetics, 2022, 02-03, Volume: 109, Issue:2

    Topics: Adolescent; Alleles; alpha-Mannosidase; Brain Stem; Cell Line, Tumor; Central Nervous System Cysts; Cerebellar Vermis; Child; Child, Preschool; Congenital Disorders of Glycosylation; Female; Fetus; Glycosylation; Hamartoma; Humans; Hypothalamus; Intellectual Disability; Leukocytes; Male; Mannose; Oligosaccharides; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Polymicrogyria; Tongue

2022
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: 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
[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
Letter: Clinical features of mannosidosis.
    The Journal of pediatrics, 1975, Volume: 86, Issue:2

    Topics: Adolescent; Adult; Child; Child, Preschool; Face; Fibroblasts; Glycoside Hydrolases; Hearing Disorders; Humans; Intellectual Disability; Leukocytes; Liver; Male; Mannose; Sex Factors

1975
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
Chemical and enzymic studies of a family with skeletal abnormalities associated with mental retardation.
    Clinica chimica acta; international journal of clinical chemistry, 1970, Volume: 29, Issue:2

    Topics: Acid Phosphatase; Adolescent; Adult; Alkaline Phosphatase; Biopsy; Child; Child, Preschool; Dwarfism; Female; Femur; Galactosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Humans; Hyaluronic Acid; Intellectual Disability; Lysosomes; Male; Mannose; Radiography; Skeleton; Skin; Spectrophotometry

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
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
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
Leroy's l-cell disease: markedly increased activity of plasma acid hydrolases.
    The Journal of laboratory and clinical medicine, 1974, Volume: 83, Issue:3

    Topics: Abnormalities, Multiple; Acid Phosphatase; Arabinose; Corneal Opacity; Cytoplasmic Granules; Fibroblasts; Galactosidases; Glucosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Intellectual Disability; Mannose; Metabolism, Inborn Errors; Mucopolysaccharidoses; Phosphoric Diester Hydrolases; Retinitis Pigmentosa; Skin

1974