Page last updated: 2024-08-22

acetylglucosamine and AGA Deficiency

acetylglucosamine has been researched along with AGA Deficiency in 55 studies

Research

Studies (55)

Timeframe	Studies, this research(%)	All Research%
pre-1990	19 (34.55)	18.7374
1990's	31 (56.36)	18.2507
2000's	3 (5.45)	29.6817
2010's	2 (3.64)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Arvio, M; Mononen, I	1
Dunder, U; Kelo, E; Mononen, I; Valtonen, P	1
Chabás, A; Coll, MJ; Fernández-Herrera, JM; García-Díez, A; Sánchez-Pérez, J; Vargas-Díez, E	1
Arvio, M; Arvio, P; Hurmerinta, K; Pirinen, S; Sillanpää, M	1
Ammälä, P; Aula, P; Rapola, J; von Koskull, H	1
Caprari, P; Di Dio, R; Musumeci, S; Salvati, A; Salvo, G; Schiliró, G	1
Autio, S; Simell, O; Sipilä, I	1
Becker, C; Gehler, J; Hartmann, J; Sewell, AC; Spranger, J	2
Maury, CP	2
Maury, P; Palo, J	1
Marnela, KM	1
Maury, CP; Palo, J	1
Danos, O; Enomaa, N; Jalanko, A; Peltonen, L	1
Bardet, J; Candito, M; Chambon, P; Kamoun, P; Mariani, R; Parvy, P; Rabier, D	1
Aula, P; Hietala, M; Isoniemi, A; Jalanko, A; Peltonen, L	1
Ankener, W; Brainerd, S; Delahunty, CM; Mononen, IT; Nickerson, DA	1
Rapola, J	1
Borud, O; Nilssen, O; Tollersrud, OK; Tranebjaerg, L	1
Järveläinen, HT; Määttä, A; Nelimarkka, LO; Penttinen, RP	1
Ikonen, E; Peltonen, L; Syvänen, AC	1
Yoshida, K	1
Kaartinen, VM; Mononen, IT; Williams, JC	1
Aronson, NN; Fensom, AH; Fisher, KJ; Park, H; Vettese, MB	1
Arvio, M	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
Abu-Libdeh, BY; Ben-Neriah, Z; Sury, V; Zeigler, M; Zlotogora, J	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	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
Fahlman, C; Jalanko, A; Karlsson, S; Laine, M; Peltonen, L; Rapola, J; Renlund, M; Richter, J	1
Aula, P; Hietala, M; Savontaus, ML; Valkonen, S	1
Dunder, U; Mononen, I	1
Borud, O; Lie, SO; Strömme, JH; Torp, KH	1
Akasaki, M; Aula, P; Funakoshi, I; Sugahara, K; Yamashina, I	1
Ikonen, E; Peltonen, L	1
Aula, P; Grön, K; Halila, R; Ikonen, E; Manninen, T; Peltonen, L; Syvänen, AC; Tollersrud, O	1
Hirabayashi, Y; Ikeda, S; Tsuji, S; Yamauchi, T; Yanagisawa, N; Yoshida, K	1
Airaksinen, E; Matilainen, R; Mononen, I; Mononen, T	1
Aronson, NN; Fisher, KJ	1
Kaartinen, V; Mononen, I	1
Mononen, TK	1
Schmidt, H; Sewell, AC; Ullrich, K; von Lengerke, JH; Weglage, J; Ziegler, R	1
Heino, J; Larjava, H; Näntö-Salonen, K; Pelliniemi, LJ; Penttinen, R; Säämanen, AM; Tammi, M	1
Kaartinen, V; Mononen, I; Mononen, T	2
Alfthan, G; Halme, T; Langevelde, FV; Näntö-Salonen, K; Penttinen, R; Vis, RD	1
Mononen, I; Mononen, T; Parviainen, M; Penttilä, I	1

Reviews

6 review(s) available for acetylglucosamine and AGA Deficiency

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
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. The British journal of dermatology, 2002, Volume: 147, Issue:4 Topics: Acetylglucosamine; Adult; Aspartylglucosaminuria; Disease Progression; Fabry Disease; Female; Follow-Up Studies; Humans; Macroglossia; Skin Diseases, Genetic	2002
Lysosomal storage diseases in adults. Pathology, research and practice, 1994, Volume: 190, Issue:8 Topics: Acetylglucosamine; Adult; Age of Onset; Aspartylglucosaminuria; G(M2) Ganglioside; Gangliosidoses; Gangliosidosis, GM1; Gaucher Disease; Humans; Leukodystrophy, Metachromatic	1994
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
[Aspartylglucosaminuria]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Biomarkers; Diagnosis, Differential; Humans; Lysosomal Storage Diseases; Prognosis	1998
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

49 other study(ies) available for acetylglucosamine and AGA Deficiency

Article	Year
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:5 Topics: Acetylglucosamine; Age Factors; Animals; Animals, Newborn; Aspartylglucosaminuria; Aspartylglucosylaminase; Biomarkers; Brain; Disease Models, Animal; Dose-Response Relationship, Drug; Drug Administration Schedule; Enzyme Replacement Therapy; Humans; Injections, Intraperitoneal; Injections, Intravenous; Mice; Mice, Knockout; NIH 3T3 Cells; Recombinant Proteins; Time Factors; Transfection	2010
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
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria. American journal of medical genetics, 1984, Volume: 19, Issue:2 Topics: Acetylglucosamine; Amidohydrolases; Amniotic Fluid; Aspartylglucosaminuria; Aspartylglucosylaminase; Cells, Cultured; Chorionic Villi; Female; Fetus; Glucosamine; Heterozygote; Humans; Lysosomes; Male; Pregnancy; Prenatal Diagnosis	1984
Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child. American journal of medical genetics, 1984, Volume: 19, Issue:4 Topics: Acetylglucosamine; Adult; Amidohydrolases; Aspartylglucosaminuria; Child; Cytochrome-B(5) Reductase; Female; Humans; Intellectual Disability; Male; Methemoglobinemia; NADH, NADPH Oxidoreductases; Pedigree	1984
Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening. Clinica chimica acta; international journal of clinical chemistry, 1983, Sep-30, Volume: 133, Issue:2 Topics: Acetylglucosamine; alpha-L-Fucosidase; Amidohydrolases; Amino Acids; Aspartylglucosaminuria; Chromatography, Thin Layer; Hot Temperature; Humans	1983
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. Helvetica paediatrica acta, 1981, Volume: 36, Issue:2 Topics: Abnormalities, Multiple; Acetylglucosamine; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Child; Fabry Disease; Facial Bones; Female; Glucosamine; Humans; Intellectual Disability; Italy; Male; Pedigree; Skull	1981
Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics. Journal of inherited metabolic disease, 1981, Volume: 4, Issue:4 Topics: Acetylglucosamine; Adult; Amidohydrolases; Aspartylglucosaminuria; Child; Consanguinity; Female; Glucosamine; Humans; Intellectual Disability; Leukocytes; Male; Oligosaccharides; Pedigree	1981
Detection of aspartylglycosaminuria by gas--liquid chromatography. Clinical chemistry, 1981, Volume: 27, Issue:12 Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gas; Glucosamine; Humans; Middle Aged	1981
Characterization of the storage material of peripheral lymphocytes in aspartylglycosaminuria. Clinical science (London, England : 1979), 1980, Volume: 58, Issue:2 Topics: Acetylglucosamine; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Female; Gas Chromatography-Mass Spectrometry; Glucosamine; Humans; Lymphocytes; Vacuoles	1980
Automated ion-exchange chromatography in the detection of aspartylglucosaminuria. Journal of chromatography, 1980, Jun-13, Volume: 182, Issue:3-4 Topics: Acetylglucosamine; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Autoanalysis; Chromatography, Ion Exchange; Glucosamine; Humans; Microchemistry	1980
Accumulation of glycoprotein-derived metabolites in neural and visceral tissue in aspartylglycosaminuria. The Journal of laboratory and clinical medicine, 1980, Volume: 96, Issue:5 Topics: Acetylglucosamine; Amidohydrolases; Asparagine; Aspartylglucosaminuria; Glucosamine; Humans; Kidney; Nerve Tissue; Oligosaccharides; Spleen; Thyroid Gland; Tissue Distribution	1980
N-Acetylglucosamine-asparagine levels in tissues of patients with aspartylglycosaminuria. Clinica chimica acta; international journal of clinical chemistry, 1980, Dec-08, Volume: 108, Issue:2 Topics: Acetylglucosamine; Adult; Amidohydrolases; Asparagine; Aspartic Acid; Aspartylglucosaminuria; Endocytosis; Female; Glucosamine; Glycoproteins; Humans; Lysosomes; Male; Tissue Distribution	1980
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
[Contribution of ion exchange chromatography of amino acids to the diagnosis of aspartylglucosaminuria]. Annales de biologie clinique, 1995, Volume: 53, Issue:3 Topics: Acetylglucosamine; Amino Acids; Aspartylglucosaminuria; Chromatography, Ion Exchange; Humans; Infant, Newborn; Urine	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
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
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
[Molecular analysis of the aspartylglucosaminidase gene in Japanese patients with aspartylglucosaminuria]. Nihon rinsho. Japanese journal of clinical medicine, 1993, Volume: 51, Issue:9 Topics: Acetylglucosamine; Asian People; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; DNA; Female; Gene Amplification; Homozygote; Humans; Japan; Male; Molecular Sequence Data; Mutation	1993
A fluorometric assay for glycosylasparaginase activity and detection of aspartylglycosaminuria. Analytical biochemistry, 1993, Feb-01, Volume: 208, Issue:2 Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Evaluation Studies as Topic; Fibroblasts; Fluorometry; Humans; Leukocytes; Metabolism, Inborn Errors; Sensitivity and Specificity	1993
Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient. The Biochemical journal, 1993, Mar-15, Volume: 290 ( Pt 3) Topics: Acetylglucosamine; Alleles; Amino Acid Sequence; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Cell Line; DNA; Female; Fluorescent Antibody Technique; Gene Deletion; Heterozygote; Humans; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Transfection; United Kingdom; United States	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
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 among Palestinian Arabs. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6 Topics: Acetylglucosamine; Adolescent; Aspartylglucosaminuria; Aspartylglucosylaminase; Child; Fibroblasts; Humans; Israel; Leukocytes; Saudi Arabia	1997
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
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
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
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
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
Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet. Journal of inherited metabolic disease, 1978, Volume: 1, Issue:3 Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Child; Child, Preschool; Creatinine; Dietary Proteins; Female; Glucosamine; Humans; Intellectual Disability; Male; Mucolipidoses	1978
Characterization of a mannose-containing glycoasparagine isolated from urine of a patient with aspartylglycosylaminuria (AGU). FEBS letters, 1976, Oct-15, Volume: 69, Issue:1 Topics: Acetylglucosamine; Amidohydrolases; Asparagine; Aspartylglucosaminuria; Gas Chromatography-Mass Spectrometry; Glucosamine; Hexosaminidases; Humans; Mannose; Mannosidases; Oligosaccharides	1976
Spectrum of mutations in aspartylglucosaminuria. Proceedings of the National Academy of Sciences of the United States of America, 1991, Dec-15, Volume: 88, Issue:24 Topics: Acetylglucosamine; Adolescent; Adult; Alleles; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Cell Line; Child; Child, Preschool; Chromosome Deletion; Codon; DNA; DNA Transposable Elements; Fibroblasts; Humans; Infant; Leukocytes; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Polymorphism, Genetic; RNA; RNA Splicing	1991
Two Japanese cases with aspartylglycosaminuria: clinical and morphological features. Clinical genetics, 1991, Volume: 40, Issue:4 Topics: Acetylglucosamine; Adult; Angiokeratoma; Aspartylglucosaminuria; Carbohydrate Sequence; Epilepsies, Myoclonic; Female; Humans; Intellectual Disability; Japan; Molecular Sequence Data; Oligosaccharides; Rectum; Skin Neoplasms	1991
High prevalence of aspartylglycosaminuria among school-age children in eastern Finland. Human genetics, 1991, Volume: 87, Issue:3 Topics: Acetylglucosamine; Aspartylglucosaminuria; Child; Finland; Humans; Intellectual Disability; Metabolism, Inborn Errors; Prevalence	1991
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient. FEBS letters, 1991, Aug-19, Volume: 288, Issue:1-2 Topics: Acetylglucosamine; Amino Acid Sequence; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Black People; Child; Chromosome Deletion; Exons; Fluorescent Antibody Technique; Glycosuria; Humans; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Protein Conformation; RNA Splicing	1991
Detection of aspartylglycosaminuria using urine specimens recovered from absorbent filter paper. Clinica chimica acta; international journal of clinical chemistry, 1990, Oct-31, Volume: 191, Issue:1-2 Topics: Acetylglucosamine; Adolescent; Adult; Aspartylglucosaminuria; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Paper; Specimen Handling	1990
Aspartylglucosamine excretion in heterozygous carriers of aspartylglycosaminuria. Clinica chimica acta; international journal of clinical chemistry, 1989, Mar-15, Volume: 180, Issue:1 Topics: Acetylglucosamine; Amidohydrolases; Aspartylglucosaminuria; Glucosamine; Heterozygote; Humans	1989
[Aspartylglucosaminuria. Clinical description of 2 German patients]. Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1989, Volume: 137, Issue:8 Topics: Abnormalities, Multiple; Acetylglucosamine; Adolescent; Amidohydrolases; Aspartylglucosaminuria; Child; Child Development; Female; Fibroblasts; Humans; Intellectual Disability; Leukocytes; Risk Factors	1989
Abnormal dermal proteoglycan in aspartylglycosaminuria: a possible mechanism for ultrastructural changes of collagen fibrils in a glycoprotein storage disorder. Connective tissue research, 1987, Volume: 16, Issue:4 Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartylglucosaminuria; Chondroitin Lyases; Chondroitin Sulfates; Collagen; Dermatan Sulfate; Electrophoresis, Polyacrylamide Gel; Female; Glucosamine; Glucuronates; Glucuronic Acid; Heparitin Sulfate; Humans; Male; Microscopy, Electron; Proteoglycans; Skin	1987
Amniotic fluid glycoasparagines in fetal aspartylglycosaminuria. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:2 Topics: Acetylglucosamine; Amidohydrolases; Amniotic Fluid; Aspartylglucosaminuria; Female; Galactose; Glycopeptides; Humans; Pregnancy	1988
Laboratory detection of aspartylglycosaminuria. Scandinavian journal of clinical and laboratory investigation. Supplementum, 1988, Volume: 191 Topics: Acetylglucosamine; Amidohydrolases; Amniotic Fluid; Aspartylglucosaminuria; Genetic Carrier Screening; Glycoproteins; Humans; Metabolism, Inborn Errors	1988
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
Liquid-chromatographic detection of aspartylglycosaminuria. Clinical chemistry, 1986, Volume: 32, Issue:3 Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartylglucosaminuria; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Glucosamine; Humans; Infant; Male	1986