Page last updated: 2024-08-22

acetylglucosamine and Lysosomal Enzyme Disorders

acetylglucosamine has been researched along with Lysosomal Enzyme Disorders in 36 studies

Research

Studies (36)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	30 (83.33)	18.2507
2000's	5 (13.89)	29.6817
2010's	1 (2.78)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Arvio, M; Mononen, I	1
Autti, T; Joensuu, R; Lönnqvist, T	1
Arvio, M; Arvio, P; Hurmerinta, K; Pirinen, S; Sillanpää, M	1
Danos, O; Enomaa, N; Jalanko, A; Peltonen, L	1
Aula, P; Hietala, M; Isoniemi, A; Jalanko, A; Peltonen, L	1
Ankener, W; Brainerd, S; Delahunty, CM; Mononen, IT; Nickerson, DA	1
Mononen, I; Mononen, T; Savolainen, K; Ylikangas, P	1
Borud, O; Nilssen, O; Tollersrud, OK; Tranebjaerg, L	2
Kaartinen, V; Mononen, I; Mononen, T; Savolainen, K; Ylikangas, P	1
Järveläinen, HT; Määttä, A; Nelimarkka, LO; Penttinen, RP	1
Ikonen, E; Peltonen, L; Syvänen, AC	1
Arvio, M; Autio, S; Gaily, E; Oksanen, V; Sainio, K	1
Aronson, NN; Fisher, KJ; Kaartinen, V; Mononen, I	1
Arvio, M	1
Aronson, NN; Fensom, AH; Park, H; Rossiter, M; Winchester, B	1
Gonzalez-Gomez, I; Groffen, J; Heisterkamp, N; Kaartinen, V; Mononen, I; Noronkoski, T; Voncken, JW	1
Aula, P; Greenberg, CR; Haworth, JC; Hietala, M; Laitinen, A; Schroeder, ML; Seargeant, LE	1
Aronen, HJ; Autti, T; Haltia, M; Lauronen, L; Raininko, R; Salonen, O; Santavuori, P; Vanhanen, SL; Wirtavuori, K	1
Autti, T; Ginns, EI; Ikonen, S; Jalanko, A; Joensuu, R; LaMarca, ME; Manninen, T; McKinney, CE; Peltonen, L; Rapola, J; Riekkinen, P; Sipilä, I; Tenhunen, K	1
Coulter-Mackie, MB; Gordon, BA; Haust, MD; Hinton, GG; Rip, JW; Rupar, CA; Scott, E	1
Arvio, MA; Pelkonen, PM; Rapola, JM	1
Yamaguchi, S	1
Gonzalez-Gomez, I; Groffen, J; Heisterkamp, N; Kaartinen, V; Mononen, I; Noronkoski, T	1
Gonzalez-Gomez, I; Groffen, J; Heisterkamp, N; Kaartinen, V; Mononen, I	1
Arvio, M; Arvio, P; Lukinmaa, PL; Pirinen, S; Saxen, L; Wolf, J	1
Arvio, M; Arvio, P; Kero, M; Lukinmaa, PL; Pirinen, S	1
Arvio, M; Arvio, P; Marttinen, E; Pirinen, S; Sipilä, I	1
Fahlman, C; Jalanko, A; Karlsson, S; Laine, M; Peltonen, L; Rapola, J; Renlund, M; Richter, J	1
Aronson, NN	1
Dunder, U; Groffen, J; Heisterkamp, N; Kaartinen, V; Kosma, VM; Mononen, I; Väänänen, E; Valtonen, P	1
Aula, P; Hietala, M; Savontaus, ML; Valkonen, S	1
Cooper, A; Forsyth, JM; Guy, R; Morton, RE	1
Dunder, U; Mononen, I	1
Ikonen, E; Peltonen, L	1
Aula, P; Bengtström, M; Ikonen, E; Manninen, T; Peltonen, L; Söderlund, H; Syvänen, AC	1

Reviews

6 review(s) available for acetylglucosamine and Lysosomal Enzyme Disorders

Article	Year
Aspartylglycosaminuria: a review. Orphanet journal of rare diseases, 2016, 12-01, Volume: 11, Issue:1 Topics: Acetylglucosamine; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Glycoproteins; Humans; Lysosomal Storage Diseases; Mutation	2016
Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions. Scandinavian journal of clinical and laboratory investigation. Supplementum, 1993, Volume: 213 Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; DNA; Finland; Humans; Lysosomal Storage Diseases; Mutation	1993
Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1993, Volume: 7, Issue:13 Topics: Acetylglucosamine; Amino Acid Sequence; Aminolevulinic Acid; Animals; Aspartylglucosylaminase; Base Sequence; Biological Evolution; Carbohydrate Sequence; DNA, Complementary; Glycoproteins; Humans; Lysosomal Storage Diseases; Molecular Sequence Data; Mutation	1993
[Aspartylglucosaminuria]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Biomarkers; Diagnosis, Differential; Humans; Lysosomal Storage Diseases; Prognosis	1998
Aspartylglycosaminuria: biochemistry and molecular biology. Biochimica et biophysica acta, 1999, Oct-08, Volume: 1455, Issue:2-3 Topics: Acetylglucosamine; Amino Acid Sequence; Animals; Aspartylglucosylaminase; Base Sequence; Disease Models, Animal; DNA, Complementary; Evolution, Molecular; Finland; Gene Deletion; Gene Rearrangement; Glycoproteins; Humans; Lysosomal Storage Diseases; Lysosomes; Molecular Sequence Data; Mutation; Mutation, Missense	1999
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease. Human mutation, 1992, Volume: 1, Issue:5 Topics: Acetylglucosamine; Amino Acid Sequence; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; DNA; DNA Mutational Analysis; Finland; Gene Frequency; Genetic Carrier Screening; Humans; Lysosomal Storage Diseases; Molecular Structure; Phenotype	1992

Other Studies

30 other study(ies) available for acetylglucosamine and Lysosomal Enzyme Disorders

Article	Year
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. Acta radiologica (Stockholm, Sweden : 1987), 2008, Volume: 49, Issue:6 Topics: Acetylglucosamine; Adolescent; Adult; Child; Child, Preschool; Female; Humans; Imaging, Three-Dimensional; Lysosomal Storage Diseases; Magnetic Resonance Imaging; Male; Pulvinar; Retrospective Studies; Thalamus	2008
Reduction in head size in patients with aspartylglucosaminuria. Acta neurologica Scandinavica, 2005, Volume: 112, Issue:5 Topics: Acetylglucosamine; Adolescent; Adult; Aged; Aspartylglucosaminuria; Aspartylglucosylaminase; Cephalometry; Child; Child, Preschool; Dementia; Disease Progression; Female; Follow-Up Studies; Humans; Lysosomal Storage Diseases; Male; Microcephaly; Reference Values	2005
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. Human gene therapy, 1995, Volume: 6, Issue:6 Topics: Acetylglucosamine; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Cell Line; CHO Cells; Cricetinae; DNA Primers; Endocytosis; Feasibility Studies; Gene Transfer Techniques; Genetic Therapy; Humans; Lysosomal Storage Diseases; Molecular Sequence Data; Neurons; Recombinant Proteins; Retroviridae	1995
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene. Human mutation, 1995, Volume: 5, Issue:4 Topics: Acetylglucosamine; Amino Acid Sequence; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Chromosome Mapping; DNA Mutational Analysis; Exons; Female; Finland; Humans; Lysosomal Storage Diseases; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Sequence Deletion	1995
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay. Clinical chemistry, 1995, Volume: 41, Issue:1 Topics: Acetylglucosamine; Alleles; Aspartylglucosaminuria; Base Sequence; DNA Ligases; Finland; Heterozygote; Homozygote; Humans; Lysosomal Storage Diseases; Molecular Sequence Data; Mutation; Oligonucleotides; Polymerase Chain Reaction; Templates, Genetic	1995
Neonatal detection of aspartylglycosaminuria. Lancet (London, England), 1994, May-21, Volume: 343, Issue:8908 Topics: Acetylglucosamine; Aspartylglucosylaminase; Female; Fetal Blood; Finland; Humans; Infant, Newborn; Lysosomal Storage Diseases; Mass Screening	1994
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. Journal of medical genetics, 1994, Volume: 31, Issue:5 Topics: Acetylglucosamine; Adult; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; DNA Primers; Female; Finland; Genes, Recessive; Humans; Lysosomal Storage Diseases; Male; Middle Aged; Molecular Epidemiology; Molecular Sequence Data; Norway; Pedigree; Point Mutation; Polymorphism, Genetic; White People	1994
Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes. Clinical chemistry, 1994, Volume: 40, Issue:3 Topics: Acetylglucosamine; Adolescent; Adult; Aged; Aspartylglucosylaminase; Child; Chromatography, High Pressure Liquid; DNA; Finland; Fluorometry; Humans; Hydrogen-Ion Concentration; Lymphocytes; Lysosomal Storage Diseases; Middle Aged; Mutation; Polymerase Chain Reaction; Reference Values	1994
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease. Biochimica et biophysica acta, 1994, Feb-22, Volume: 1225, Issue:3 Topics: Acetylglucosamine; Aspartylglucosaminuria; Cells, Cultured; Collagen; Extracellular Matrix; Fibroblasts; Humans; Lysosomal Storage Diseases; Procollagen; Proteoglycans; RNA, Messenger; Skin; Sulfur Radioisotopes	1994
Epileptic seizures in aspartylglucosaminuria: a common disorder. Acta neurologica Scandinavica, 1993, Volume: 87, Issue:5 Topics: Acetylglucosamine; Adolescent; Adult; Anticonvulsants; Cerebral Cortex; Child; Chromosome Aberrations; Chromosome Disorders; Dose-Response Relationship, Drug; Electroencephalography; Epilepsies, Partial; Evoked Potentials; Female; Follow-Up Studies; Genes, Recessive; Humans; Lysosomal Storage Diseases; Male; Middle Aged; Neuropsychological Tests	1993
A simple and rapid PCR based method for AGU(Fin) determination. Human molecular genetics, 1993, Volume: 2, Issue:4 Topics: Acetylglucosamine; Base Sequence; DNA; Female; Finland; Humans; Lysosomal Storage Diseases; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction	1993
Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions. Acta paediatrica (Oslo, Norway : 1992), 1993, Volume: 82, Issue:5 Topics: Acetylglucosamine; Adolescent; Adult; Aspartylglucosaminuria; Case-Control Studies; Child; Child Development; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Intelligence Tests; Lysosomal Storage Diseases; Male; Middle Aged	1993
Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin. Journal of inherited metabolic disease, 1996, Volume: 19, Issue:1 Topics: Acetylglucosamine; Adolescent; Amino Acid Sequence; Aspartylglucosylaminase; Base Sequence; Blotting, Western; Exons; Humans; Lysosomal Storage Diseases; Male; Mauritania; Molecular Sequence Data; Polymerase Chain Reaction; Protein Processing, Post-Translational	1996
A mouse model for the human lysosomal disease aspartylglycosaminuria. Nature medicine, 1996, Volume: 2, Issue:12 Topics: Acetylglucosamine; Age Factors; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Central Nervous System; Disease Models, Animal; Female; Humans; Lysosomal Storage Diseases; Lysosomes; Male; Mice; Mice, Knockout; Psychomotor Performance; RNA, Messenger; Stem Cells; Urinary Bladder	1996
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. Clinical genetics, 1997, Volume: 51, Issue:3 Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Bone Marrow Transplantation; Canada; Female; Humans; Infant, Newborn; Lysosomal Storage Diseases; Pedigree; Point Mutation; Sequence Analysis, DNA	1997
Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation. Journal of child neurology, 1997, Volume: 12, Issue:6 Topics: Acetylglucosamine; Adolescent; Adult; Age Factors; Aspartylglucosaminuria; Basal Ganglia; Brain; Case-Control Studies; Cerebral Cortex; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Lysosomal Storage Diseases; Magnetic Resonance Imaging; Male; Nerve Fibers, Myelinated; Neurons; Thalamus; Vacuoles	1997
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Human molecular genetics, 1998, Volume: 7, Issue:2 Topics: Acetylglucosamine; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Brain; Disease Models, Animal; Disease Progression; Gene Targeting; Genes, Recessive; Humans; Intellectual Disability; Liver; Lysosomal Storage Diseases; Magnetic Resonance Imaging; Maze Learning; Mice; Mice, Knockout; Microscopy, Electron; Phenotype	1998
Aspartylglucosaminuria in a Canadian family. Clinical and investigative medicine. Medecine clinique et experimentale, 1998, Volume: 21, Issue:3 Topics: Acetylglucosamine; Adult; Aspartylglucosaminuria; Aspartylglucosylaminase; Canada; Child; Female; Humans; Lysosomal Storage Diseases; Male; Middle Aged; Pedigree	1998
Chronic arthritis in patients with aspartylglucosaminuria. The Journal of rheumatology, 1998, Volume: 25, Issue:6 Topics: Acetylglucosamine; Adolescent; Adult; Arthritis; Aspartylglucosaminuria; Aspartylglucosylaminase; Child; Child, Preschool; Chronic Disease; Female; Finland; Hand; Humans; Lysosomal Storage Diseases; Lysosomes; Male; Radiography; Rheumatoid Factor; Stromal Cells; Synovial Membrane; Wrist; Wrist Joint	1998
Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: a mouse model for aspartylglycosaminuria. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:3 Topics: Acetylglucosamine; Animals; Aspartylglucosylaminase; Disease Models, Animal; Gene Targeting; Lysosomal Storage Diseases; Mice; Phenotype	1998
Progressive neurodegeneration in aspartylglycosaminuria mice. The American journal of pathology, 1998, Volume: 153, Issue:4 Topics: Acetylglucosamine; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Central Nervous System; Cytoplasm; Female; Gait; Glial Fibrillary Acidic Protein; Immunoenzyme Techniques; Lysosomal Storage Diseases; Lysosomes; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Neurodegenerative Diseases; Neurons; Urinary Bladder; Vacuoles	1998
Impaired oral health in patients with aspartylglucosaminuria. Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics, 1998, Volume: 86, Issue:5 Topics: Acetylglucosamine; Adolescent; Adult; Aged; Alveolar Bone Loss; Aspartylglucosaminuria; Case-Control Studies; Child; Child, Preschool; Dental Caries; DMF Index; Female; Finland; Humans; Lysosomal Storage Diseases; Male; Middle Aged; Mouth Diseases; Mouth Neoplasms; Odontogenic Tumors; Oral Hygiene Index; Periodontal Diseases; Periodontal Index; Radiography; Tooth Loss	1998
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. Journal of medical genetics, 1999, Volume: 36, Issue:5 Topics: Acetylglucosamine; Adolescent; Adult; Angiofibroma; Aspartylglucosaminuria; Aspartylglucosylaminase; Child; Child, Preschool; Face; Facial Neoplasms; Fibroma; Finland; Gingiva; Humans; Immunohistochemistry; Lysosomal Storage Diseases; Middle Aged; Mouth Mucosa; Skin; Skin Neoplasms	1999
Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria. The Journal of pediatrics, 1999, Volume: 134, Issue:6 Topics: Acetylglucosamine; Adolescent; Adult; Child; Child, Preschool; Female; Finland; Growth; Humans; Infant; Infant, Newborn; Lysosomal Storage Diseases; Male; Menarche; Puberty	1999
Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation. Experimental hematology, 1999, Volume: 27, Issue:9 Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Bone Marrow Transplantation; Brain; Humans; Intellectual Disability; Kidney; Liver; Lysosomal Storage Diseases; Lysosomes; Mice; Mice, Inbred C57BL; Mice, Knockout; Nerve Tissue Proteins; Organ Specificity; Polymerase Chain Reaction; Radiation Chimera; Specific Pathogen-Free Organisms; Spleen; Vacuoles	1999
Enzyme replacement therapy in a mouse model of aspartylglycosaminuria. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2000, Volume: 14, Issue:2 Topics: Acetylglucosamine; Animals; Aspartylglucosylaminase; Half-Life; Kidney; Liver; Lysosomal Storage Diseases; Mice; Mice, Mutant Strains; Spleen; Tissue Distribution	2000
Origin of Finnish mutations causing aspartylglucosaminuria. Hereditas, 1999, Volume: 131, Issue:3 Topics: Acetylglucosamine; Alleles; Aspartylglucosaminuria; Aspartylglucosylaminase; Female; Finland; Haplotypes; Humans; Lysosomal Storage Diseases; Male; Mutation; Pedigree	1999
Co-existence of lysosomal storage diseases in a consanguineous family. Child: care, health and development, 2001, Volume: 27, Issue:2 Topics: Acetylglucosamine; Asia; Child, Preschool; Consanguinity; England; Fabry Disease; Female; Heterozygote; Humans; Infant, Newborn; Lysosomal Storage Diseases; Male; Pedigree	2001
Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria. FEBS letters, 2001, Jun-15, Volume: 499, Issue:1-2 Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Cell Line, Transformed; Coculture Techniques; Culture Media, Conditioned; Endocytosis; Fibroblasts; Fluorescent Antibody Technique; Herpesvirus 4, Human; Humans; Leukocytes; Lymphocytes; Lysosomal Storage Diseases; Lysosomes; Mannosephosphates; Protein Transport; Receptor, IGF Type 2; Y Chromosome	2001
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics, 1992, Volume: 12, Issue:3 Topics: Acetylglucosamine; Alleles; Aspartylglucosylaminase; Base Sequence; DNA; Finland; Gene Frequency; Genetic Carrier Screening; Genetic Techniques; Humans; Leukocytes; Lysosomal Storage Diseases; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Prevalence	1992