n-acetylglucosaminylasparagine and AGA Deficiency

n-acetylglucosaminylasparagine has been researched along with AGA Deficiency in 49 studies

Research

Studies (49)

Timeframe	Studies, this research(%)	All Research%
pre-1990	18 (36.73)	18.7374
1990's	26 (53.06)	18.2507
2000's	3 (6.12)	29.6817
2010's	2 (4.08)	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
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
Yamaguchi, S	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
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 n-acetylglucosaminylasparagine 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

43 other study(ies) available for n-acetylglucosaminylasparagine 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
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
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
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