n-acetylglucosaminylasparagine has been researched along with acetylglucosamine in 110 studies
Studies (n-acetylglucosaminylasparagine) | Trials (n-acetylglucosaminylasparagine) | Recent Studies (post-2010) (n-acetylglucosaminylasparagine) | Studies (acetylglucosamine) | Trials (acetylglucosamine) | Recent Studies (post-2010) (acetylglucosamine) |
---|---|---|---|---|---|
111 | 0 | 3 | 5,674 | 31 | 2,001 |
Protein | Taxonomy | n-acetylglucosaminylasparagine (IC50) | acetylglucosamine (IC50) |
---|---|---|---|
Cytochrome P450 3A4 | Homo sapiens (human) | 1.9953 | |
Cannabinoid receptor 1 | Rattus norvegicus (Norway rat) | 2.5119 | |
Killer cell lectin-like receptor subfamily B member 1A | Rattus norvegicus (Norway rat) | 2.2536 |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 41 (37.27) | 18.7374 |
1990's | 53 (48.18) | 18.2507 |
2000's | 12 (10.91) | 29.6817 |
2010's | 3 (2.73) | 24.3611 |
2020's | 1 (0.91) | 2.80 |
Authors | Studies |
---|---|
Borud, O; Lie, SO; Strömme, JH; Torp, KH | 1 |
Maury, P | 1 |
Kärkkäinen, J; Maury, P | 1 |
Dilling, LA; Haworth, JC; Seargeant, LE | 1 |
Ikonen, E; Peltonen, L | 1 |
Bonnaure, M; Jezequel, C; Le Berre, C; Loiseau-Corvez, MN | 1 |
Aula, P; Bengtström, M; Ikonen, E; Manninen, T; Peltonen, L; Söderlund, H; Syvänen, AC | 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 |
Aronson, NN; Fisher, KJ; Park, H | 1 |
Airaksinen, E; Matilainen, R; Mononen, I; Mononen, T | 1 |
Aronson, NN; Fisher, KJ | 2 |
Apiou, J; Bonnaure-Mallet, M; Goasguen, J; Jezequel, C; Loiseau-Corvez, MN | 1 |
Kaartinen, V; Mononen, I | 3 |
Arvio, M; Autio, S; Humaloja, K; Palo, J; Salaspuro, M; Salmela, K | 1 |
Alhadeff, JA; Argade, SP; Daves, GD; Van Halbeek, H | 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 |
Rudy, JL | 1 |
Chitayat, D; Goldman, HS; Hahm, SY; Marion, RW; Nakagawa, S; Sachs, GS | 1 |
Alfthan, G; Halme, T; Langevelde, FV; Näntö-Salonen, K; Penttinen, R; Vis, RD | 1 |
Mononen, I; Mononen, T; Parviainen, M; Penttilä, I | 1 |
Aalto, M; Kivimäki, T; Larjava, H; Näntö-Salonen, K | 1 |
Allen, JT; Goodall, R; Henderson, MJ; Holton, JB | 1 |
Bendiak, B; Cumming, DA | 1 |
Haltia, M; Maury, CP; Palo, J | 1 |
Suzuki, Y | 1 |
O'Brien, JS; Warner, TG | 1 |
Autio, S; Härö, E; Kivimäki, T; Koskela, SL; Näntö, V; Näntö-Salonen, K; Penttinen, R | 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; Kivimäki, T; Näntö-Salonen, K; Pelliniemi, LJ; Penttinen, R; Rapola, J | 1 |
Autio, S; Simell, O; Sipilä, I | 1 |
Shimizu, S; Takahashi, N; Yamada, K | 1 |
Becker, C; Gehler, J; Hartmann, J; Sewell, AC; Spranger, J | 2 |
Maury, CP | 3 |
Näntö-Salonen, K; Penttinen, R | 1 |
Ishihara, H; Sugiyama, K; Takahashi, N; Tejima, S | 1 |
Blumberg, K; Brown, JN; Bush, CA | 1 |
Nishibe, H; Takahashi, T | 1 |
Carter, RJ; Snyder, FF | 1 |
Jeanloz, RW; Kaifu, R; Matsumoto, I; Osawa, T; Walker-Nasir, E | 1 |
Maury, P; Palo, J | 1 |
Marnela, KM | 1 |
Maury, CP; Palo, J | 1 |
Ando, S; Hirabayashi, Y; Irie, F; Kon, K; Murakoshi, H; Suzuki, T; Suzuki, Y; Yoshida, K | 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 |
Airaksinen, E; Kääriäinen, R; Launiala, K; Matilainen, R; Mononen, T | 1 |
Ankener, W; Brainerd, S; Delahunty, CM; Mononen, IT; Nickerson, DA | 1 |
Rapola, J | 1 |
Dunder, U; Groffen, J; Heisterkamp, N; Kuronen, I; Mononen, I; Noronkoski, T; Romppanen, EL | 1 |
Mononen, I; Mononen, T; Savolainen, K; Ylikangas, P | 1 |
Borud, O; Nilssen, O; Tollersrud, OK; Tranebjaerg, L | 2 |
Aula, P; Gray, GR; Keulemans, JL; Kleijer, WJ; van Diggelen, OP | 1 |
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 |
Enomaa, N; Halila, R; Ikonen, E; Peltonen, L; Syvänen, AC; Tollersrud, O | 1 |
Aronson, NN; Fisher, KJ; Kaartinen, V; Mononen, I | 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 |
Aikawa, J; Kigawa, T; Kirsch, P; Kusunose, N; Ogawa, T; Yokoyama, S | 1 |
Aula, P; Hietala, M; Isoniemi, A; Palotie, A; Peltonen, L; Syvänen, AC | 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 |
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 |
Gonzalez-Gomez, I; Groffen, J; Heisterkamp, N; Kaartinen, V; Mononen, I; Noronkoski, T | 1 |
Klich, G; Paulsen, H; Schäfer, A; Schreiber, M; Thiem, 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 |
Mononen, I; Romppanen, EL | 1 |
Aronson, NN | 1 |
Aro, AR; Aula, P; Hakonen, A; Hietala, M; Niemelä, P; Peltonen, L | 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 |
Kaylor, JJ; Risley, JM | 1 |
Dunder, U; Mononen, I | 1 |
Huang, DH; Kaylor, JJ; Malik, JJ; Risley, JM; Xia, YQ; York, WM | 1 |
Huang, DH; Kaylor, JJ; Malik, JJ; Risley, JM; Xia, YQ | 1 |
Chabás, A; Coll, MJ; Fernández-Herrera, JM; García-Díez, A; Sánchez-Pérez, J; Vargas-Díez, E | 1 |
Annesi, G; Barone, R; Civitelli, D; Fiumara, A; Gambardella, A; Labate, A; Pavone, L; Quattrone, A; Zappia, M | 1 |
Malm, G; Månsson, JE; Mosskin, M; Ringdén, O; Winiarski, J | 1 |
Arvio, M; Arvio, P; Hurmerinta, K; Pirinen, S; Sillanpää, M | 1 |
Heiskala, H; Kaski, M; Kivinen, S; Laakso, ML; Lindblom, N | 1 |
Autti, T; Joensuu, R; Lönnqvist, T | 1 |
Dunder, U; Kelo, E; Mononen, I; Valtonen, P | 1 |
Miyashita, C; Tsukamoto, H; Yamamoto, A | 1 |
Arvio, M; Mononen, I | 1 |
Couse, MH; de Sain-van der Velden, MGM; Friedman, JM; Gerrits, J; Haijes, HA; Jans, JJM; Prinsen, HCMT; Selby, KA; van der Ham, M; van Hasselt, PM; van Karnebeek, CDM; Verhoeven-Duif, NM; Willems, AP | 1 |
Asahina, M; Fujinawa, R; Hirayama, H; Kajii, Y; Suzuki, T; Tozawa, R | 1 |
12 review(s) available for n-acetylglucosaminylasparagine and acetylglucosamine
Article | Year |
---|---|
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
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 |
[Mucopolysaccharidoses and disorders of glycoprotein metabolism].
Topics: Acetylglucosamine; Carbohydrate Metabolism, Inborn Errors; Glycoproteins; Glycosaminoglycans; Humans; Mucopolysaccharidoses; Structure-Activity Relationship | 1984 |
Genetic defects in glycoprotein metabolism.
Topics: Acetylglucosamine; Carbohydrate Metabolism, Inborn Errors; Gangliosidoses; Glycoproteins; Humans; Mannosides; Metabolism, Inborn Errors; Mucolipidoses; Oligosaccharides; Sialic Acids | 1983 |
Aspartylglycosaminuria: an inborn error of glycoprotein catabolism.
Topics: Acetylglucosamine; Brain; Glucosamine; Glycoproteins; Humans; Liver; Metabolism, Inborn Errors | 1982 |
Lysosomal storage diseases in adults.
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.
Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; DNA; Finland; Humans; Lysosomal Storage Diseases; Mutation | 1993 |
Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase.
Topics: Acetylglucosamine; Animals; Aspartylglucosylaminase; Humans; Mutation | 1993 |
Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.
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].
Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Biomarkers; Diagnosis, Differential; Humans; Lysosomal Storage Diseases; Prognosis | 1998 |
Aspartylglycosaminuria: biochemistry and molecular biology.
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 |
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.
Topics: Acetylglucosamine; Adult; Aspartylglucosaminuria; Disease Progression; Fabry Disease; Female; Follow-Up Studies; Humans; Macroglossia; Skin Diseases, Genetic | 2002 |
Aspartylglycosaminuria: a review.
Topics: Acetylglucosamine; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Glycoproteins; Humans; Lysosomal Storage Diseases; Mutation | 2016 |
98 other study(ies) available for n-acetylglucosaminylasparagine and acetylglucosamine
Article | Year |
---|---|
Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.
Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Child; Child, Preschool; Creatinine; Dietary Proteins; Female; Glucosamine; Humans; Intellectual Disability; Male; Mucolipidoses | 1978 |
Quantitative determination of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in the urine of patients with aspartylglycosaminuria by gas-liquid chromatography.
Topics: Acetylglucosamine; Adolescent; Adult; Asparagine; Child; Child, Preschool; Chromatography, Gas; Female; Gas Chromatography-Mass Spectrometry; Glucosamine; Humans; Male; Mucolipidoses | 1979 |
Identification of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in biological materials by gas chromatography-mass spectrometry.
Topics: Acetylglucosamine; Adult; Asparagine; Chromatography, Gas; Female; Glucosamine; Glycopeptides; Humans; Mass Spectrometry; Mucolipidoses; Ovalbumin | 1979 |
Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy.
Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Female; Hepatomegaly; Humans; Infant, Newborn; Splenomegaly | 1992 |
[Diagnosis of aspartylglycosaminuria in a nine year-old girl admitted to pediatric psychiatry].
Topics: Acetylglucosamine; Child; Child Psychiatry; Female; Humans; Mental Disorders; Metabolism, Inborn Errors | 1992 |
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
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 |
Spectrum of mutations in aspartylglucosaminuria.
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.
Topics: Acetylglucosamine; Adult; Angiokeratoma; Aspartylglucosaminuria; Carbohydrate Sequence; Epilepsies, Myoclonic; Female; Humans; Intellectual Disability; Japan; Molecular Sequence Data; Oligosaccharides; Rectum; Skin Neoplasms | 1991 |
Genomic structure of human lysosomal glycosylasparaginase.
Topics: Acetylglucosamine; Aspartylglucosylaminase; Base Sequence; Binding Sites; Exons; Glycosuria; Humans; Introns; Lysosomes; Molecular Sequence Data; Mutation; Promoter Regions, Genetic; Protein Processing, Post-Translational; TATA Box | 1991 |
High prevalence of aspartylglycosaminuria among school-age children in eastern Finland.
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.
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 |
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
Topics: Acetylglucosamine; Amino Acid Sequence; Aspartylglucosylaminase; Base Sequence; Blotting, Northern; Blotting, Southern; Cysteine; DNA; Fibroblasts; Finland; Humans; Lysosomes; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Protein Biosynthesis; Restriction Mapping; RNA, Messenger; Serine | 1991 |
Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria.
Topics: Acetylglucosamine; Acetylglucosaminidase; Biopsy; Child; Female; Gingiva; Humans; Lysosomes; Macroglossia; Mucolipidoses; Tooth Abnormalities; Tooth Eruption | 1991 |
Detection of aspartylglycosaminuria using urine specimens recovered from absorbent filter paper.
Topics: Acetylglucosamine; Adolescent; Adult; Aspartylglucosaminuria; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Paper; Specimen Handling | 1990 |
Assay of aspartylglycosylaminase by high-performance liquid chromatography.
Topics: Acetylglucosamine; Amniotic Fluid; Aspartic Acid; Aspartylglucosylaminase; Brain; Carbocysteine; Chorion; Chromatography, High Pressure Liquid; Female; Humans; Isothiocyanates; Leukocytes; Lung; Pregnancy; Reference Standards; Spectrophotometry, Ultraviolet; Thiocyanates | 1990 |
Elevated levels of serum dolichol in aspartylglucosaminuria.
Topics: Acetylglucosamine; Adult; alpha-Mannosidosis; Dolichols; Female; Glucosamine; Humans; Male; Metabolism, Inborn Errors; Middle Aged | 1990 |
The effect of alkaline borohydride treatment on N-linked carbohydrates of glycoproteins.
Topics: Acetylglucosamine; Animals; Borohydrides; Carbohydrate Conformation; Carbohydrate Sequence; Cattle; Chromatography, Gel; Chromatography, Thin Layer; Glycoproteins; Indicators and Reagents; Magnetic Resonance Spectroscopy; Molecular Sequence Data; Myoglobin; Oligosaccharides; Pancreas; Ribonuclease, Pancreatic; Ribonucleases; Whales | 1989 |
Aspartylglucosamine excretion in heterozygous carriers of aspartylglycosaminuria.
Topics: Acetylglucosamine; Amidohydrolases; Aspartylglucosaminuria; Glucosamine; Heterozygote; Humans | 1989 |
Analysis of aspartylglucosamine at the picomole level by high-performance liquid chromatography.
Topics: Acetylglucosamine; Adolescent; Adult; Child; Chromatography, High Pressure Liquid; Glucosamine; Humans; Leukocytes; Spectrophotometry, Ultraviolet | 1989 |
[Aspartylglucosaminuria. Clinical description of 2 German patients].
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.
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.
Topics: Acetylglucosamine; Amidohydrolases; Amniotic Fluid; Aspartylglucosaminuria; Female; Galactose; Glycopeptides; Humans; Pregnancy | 1988 |
Aspartylglycosaminuria diagnosed by routine urine amino acid assay.
Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Diagnostic Tests, Routine; Glucosamine; Glycoside Hydrolases; Humans | 1988 |
Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder.
Topics: Acetylglucosamine; Adolescent; Amidohydrolases; Aspartylglucosylaminase; Consanguinity; Diseases in Twins; Genes, Recessive; Gonadal Dysgenesis; Humans; Male; Pedigree; Puerto Rico; Spondylolisthesis; Spondylolysis; Testis | 1988 |
Laboratory detection of aspartylglycosaminuria.
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.
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.
Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartylglucosaminuria; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Glucosamine; Humans; Infant; Male | 1986 |
Urinary glycosaminoglycans in aspartylglycosaminuria: evidence for disturbed proteoglycan metabolism.
Topics: Acetylglucosamine; Adolescent; Adult; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Electrophoresis, Cellulose Acetate; Female; Glucosamine; Glycoproteins; Glycosaminoglycans; Humans; Male; Metabolism, Inborn Errors | 1985 |
Extra heating of amino acids.
Topics: Acetylglucosamine; Amino Acids; Child, Preschool; Chromatography, Thin Layer; Colorimetry; Fucosidosis; Hot Temperature; Humans; Metabolism, Inborn Errors; Methylhistidines | 1985 |
Hydrazinolysis-N-reacetylation of glycopeptides and glycoproteins. Model studies using 2-acetamido-1-N-(L-aspart-4-oyl)-2-deoxy-beta-D-glucopyranosy lamine.
Topics: Acetylation; Acetylglucosamine; Chemical Phenomena; Chemistry; Glucosamine; Glycopeptides; Glycoproteins; Hydrazines; Hydrolysis; Indicators and Reagents; Magnetic Resonance Spectroscopy | 1985 |
Regional distribution of glycoasparagine storage material in the brain in aspartylglycosaminuria.
Topics: Acetylglucosamine; Adult; Asparagine; Aspartic Acid; Axonal Transport; Brain; Capillaries; Endothelium; Glucosamine; Glycopeptides; Humans; Lysosomes; Male; Microscopy, Electron; Nerve Fibers, Myelinated; Neurons | 1981 |
Metabolism of collagen in aspartylglycosaminuria: urinary excretion of hydroxyproline.
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 |
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.
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.
Topics: Acetylglucosamine; Adult; Amidohydrolases; Aspartylglucosaminuria; Child; Cytochrome-B(5) Reductase; Female; Humans; Intellectual Disability; Male; Methemoglobinemia; NADH, NADPH Oxidoreductases; Pedigree | 1984 |
Abnormal collagen fibrils in aspartylglycosaminuria. Altered dermal ultrastructure in a glycoprotein storage disorder.
Topics: Acetylglucosamine; Adult; Biopsy; Cells, Cultured; Child; Child, Preschool; Collagen; Female; Fibroblasts; Glucosamine; Glycogen Storage Disease; Humans; Male; Microscopy, Electron; Microscopy, Electron, Scanning; Skin | 1984 |
Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening.
Topics: Acetylglucosamine; alpha-L-Fucosidase; Amidohydrolases; Amino Acids; Aspartylglucosaminuria; Chromatography, Thin Layer; Hot Temperature; Humans | 1983 |
Histochemical demonstration of asparagine-linked oligosaccharides in glycoproteins of human placenta and umbilical cord tissues by means of almond glycopeptidase digestion.
Topics: 3,3'-Diaminobenzidine; Acetylglucosamine; Amidohydrolases; Concanavalin A; Female; Glycoproteins; Histocytochemistry; Humans; Lectins; Oligosaccharides; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Periodic Acid-Schiff Reaction; Peroxidases; Placenta; Plant Lectins; Pregnancy; Umbilical Cord | 1983 |
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.
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.
Topics: Acetylglucosamine; Adult; Amidohydrolases; Aspartylglucosaminuria; Child; Consanguinity; Female; Glucosamine; Humans; Intellectual Disability; Leukocytes; Male; Oligosaccharides; Pedigree | 1981 |
Metabolism of collagen in aspartylglycosaminuria: decreased synthesis by cultured fibroblasts.
Topics: Acetylglucosamine; Aspartylglucosylaminase; Cells, Cultured; Collagen; Culture Media; Fibroblasts; Glucosamine; Humans; Procollagen; Proline | 1982 |
Demonstration of a new glycopeptidase, from jack-bean meal, acting on aspartylglucosylamine linkages.
Topics: Acetylglucosamine; Amidohydrolases; Ammonia; Asparagine; Chemical Phenomena; Chemistry; Fabaceae; Glucosamine; Hydrolysis; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Plants, Medicinal; Structure-Activity Relationship | 1983 |
Crystal structure and solution conformation of 1-N-acetyl-beta-D-glucopyranosyl amine: a model for the glycopeptide linkage.
Topics: Acetylglucosamine; Carbohydrate Conformation; Glucosamine; Glycopeptides; Solutions | 1982 |
Almond glycopeptidase acting on aspartylglycosylamine linkages. Multiplicity and substrate specificity.
Topics: Acetylglucosamine; Amidohydrolases; Aspartic Acid; Glycopeptides; Hydrogen-Ion Concentration; Kinetics; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Plants; Substrate Specificity | 1981 |
Detection of aspartylglycosaminuria by gas--liquid chromatography.
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 |
Measurement of aspartylglucosamine in physiological fluids with an amino acid analyzer: fused peak analysis with dual photometers.
Topics: Acetylglucosamine; Amino Acids; Body Fluids; Glucosamine; Humans; Mathematics; Spectrophotometry; Urea | 1981 |
Inhibitory activity of disaccharide-L-asparagine compounds against hemagglutination by various lectins.
Topics: Acetylglucosamine; Glycopeptides; Hemagglutination; Hemagglutination Inhibition Tests; Humans; Lectins; Oligosaccharides; Species Specificity; Structure-Activity Relationship | 1981 |
Characterization of the storage material of peripheral lymphocytes in aspartylglycosaminuria.
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.
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.
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.
Topics: Acetylglucosamine; Adult; Amidohydrolases; Asparagine; Aspartic Acid; Aspartylglucosaminuria; Endocytosis; Female; Glucosamine; Glycoproteins; Humans; Lysosomes; Male; Tissue Distribution | 1980 |
Characterization of four monosialo and a novel disialo Asn N-glycosides from the urine of a patient with aspartylglycosaminuria.
Topics: Acetylglucosamine; Adult; Carbohydrate Sequence; Chromatography, High Pressure Liquid; Female; Glycosides; Humans; Molecular Sequence Data | 1995 |
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer.
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].
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.
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 |
A population-based study on the causes of mild and severe mental retardation.
Topics: Acetylglucosamine; Age Factors; Asphyxia Neonatorum; Case-Control Studies; Cerebral Hemorrhage; Child; Down Syndrome; Female; Fetal Alcohol Spectrum Disorders; Fetal Diseases; Finland; Fragile X Syndrome; Humans; Hypoglycemia; Infant, Newborn; Infections; Intellectual Disability; Male | 1995 |
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.
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 |
Recombinant glycosylasparaginase and in vitro correction of aspartylglycosaminuria.
Topics: 3T3 Cells; Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Animals; Aspartylglucosylaminase; Biological Transport; Cell Line, Transformed; Humans; Lymphocytes; Mice; Recombinant Proteins | 1995 |
Neonatal detection of aspartylglycosaminuria.
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.
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 |
Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria.
Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Aspartylglucosylaminase; Chorionic Villi; Female; Fibroblasts; Fluorometry; Genetic Carrier Screening; Humans; Leukocytes; Pregnancy; Prenatal Diagnosis; Substrate Specificity | 1993 |
Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes.
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.
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.
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 |
[Molecular analysis of the aspartylglucosaminidase gene in Japanese patients with aspartylglucosaminuria].
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.
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.
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 |
A simple and rapid PCR based method for AGU(Fin) determination.
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.
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 |
Synthesis of N-acetylglucosaminyl asparagine-substituted puromycin analogues.
Topics: Acetylglucosamine; Anti-Bacterial Agents; Escherichia coli; Glycosylation; Magnetic Resonance Spectroscopy; Molecular Structure; Protein Synthesis Inhibitors; Puromycin; Ribosomes; RNA, Transfer, Amino Acyl; Structure-Activity Relationship | 1995 |
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.
Topics: Acetylglucosamine; Base Sequence; Carbohydrate Metabolism, Inborn Errors; DNA; DNA Mutational Analysis; DNA Primers; Female; Genetic Testing; Heterozygote; Humans; Male; Maternal-Child Health Centers; Molecular Sequence Data; Pilot Projects; Pregnancy; Sensitivity and Specificity | 1996 |
Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.
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.
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.
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.
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.
Topics: Acetylglucosamine; Adolescent; Aspartylglucosaminuria; Aspartylglucosylaminase; Child; Fibroblasts; Humans; Israel; Leukocytes; Saudi Arabia | 1997 |
Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: a mouse model for aspartylglycosaminuria.
Topics: Acetylglucosamine; Animals; Aspartylglucosylaminase; Disease Models, Animal; Gene Targeting; Lysosomal Storage Diseases; Mice; Phenotype | 1998 |
Synthesis of an N-glucoasparagine analog as a building block for a V3-loop glycopeptide from gp120 of HIV-I.
Topics: Acetylglucosamine; Amino Acid Sequence; Asparagine; Glucose; Glycosylation; HIV Envelope Protein gp120; HIV-1; Models, Chemical; Molecular Mimicry; Molecular Sequence Data; Peptide Fragments | 1998 |
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria.
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.
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.
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 |
PCR-oligonucleotide ligation assay from dried blood spots.
Topics: Acetylglucosamine; Aspartylglucosylaminase; Blood Specimen Collection; Humans; Mutation; Polymerase Chain Reaction | 1999 |
[Attitudes toward genetic testing in Finland].
Topics: Acetylglucosamine; Attitude; Case-Control Studies; Female; Finland; Genetic Diseases, Inborn; Genetic Testing; Humans; Male; Population Surveillance; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Sampling Studies; Surveys and Questionnaires | 1996 |
Enzyme replacement therapy in a mouse model of aspartylglycosaminuria.
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.
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.
Topics: Acetylglucosamine; Asia; Child, Preschool; Consanguinity; England; Fabry Disease; Female; Heterozygote; Humans; Infant, Newborn; Lysosomal Storage Diseases; Male; Pedigree | 2001 |
Synthesis of N4-(2-acetamido-2-deoxy-beta-D-glucopyranosyl)-L-asparagine analogues. n-Butyramide, 3-chloropropionamide, 3-aminopropionamide, and isovaleramide analogues.
Topics: Acetylglucosamine; Amides; Aspartylglucosylaminase; beta-Alanine; Butyrates; Hemiterpenes; Pentanoic Acids; Propionates | 2001 |
Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria.
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 |
Glycosylasparaginase activity requires the alpha-carboxyl group, but not the alpha-amino group, on N(4)-(2-Acetamido-2-deoxy-beta-D-glucopyranosyl)-L-asparagine.
Topics: Acetylglucosamine; Asparagine; Aspartylglucosylaminase; Glucose; Humans; Hydrolysis; Peptide Hydrolases; Statistics as Topic; Substrate Specificity | 2001 |
Glycosylasparaginase inhibition studies: competitive inhibitors, transition state mimics, noncompetitive inhibitors.
Topics: Acetylglucosamine; Aspartic Acid; Aspartylglucosylaminase; Cysteine; Enzyme Inhibitors; Humans; Molecular Structure; Propionates; Serine Endopeptidases | 2001 |
Startle epilepsy complicating aspartylglucosaminuria.
Topics: Acetylglucosamine; Acoustic Stimulation; Adult; Anticonvulsants; Brain; Diagnosis, Differential; Electroencephalography; Electromyography; Epilepsy; Gait Disorders, Neurologic; Humans; Lysosomal Storage Diseases, Nervous System; Magnetic Resonance Imaging; Male; Muscle Contraction; Reflex, Startle; Treatment Outcome | 2004 |
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors.
Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Intellectual Disability; Male; Siblings; Stem Cell Transplantation; Time Factors; Tissue Donors; Transplantation, Homologous | 2004 |
Reduction in head size in patients with aspartylglucosaminuria.
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 |
Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.
Topics: Acetylglucosamine; Adolescent; Adult; Child; Child, Preschool; Female; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Prevalence; Sleep Wake Disorders; Surveys and Questionnaires | 2006 |
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria.
Topics: Acetylglucosamine; Adolescent; Adult; Child; Child, Preschool; Female; Humans; Imaging, Three-Dimensional; Lysosomal Storage Diseases; Magnetic Resonance Imaging; Male; Pulvinar; Retrospective Studies; Thalamus | 2008 |
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.
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 |
ISOLATION AND IDENTIFICATION OF 2-ACETAMIDO-1-β-(L-β-ASPARTAMIDO)-1,2-DIDEOXY-D-GLUCOSE FROM PARTIAL HYDROLYSATE OF OVALBUMIN GLYCOPEPTIDE PREPARATION.
Topics: Acetylglucosamine; Glycopeptides; Molecular Structure; Ovalbumin; Protein Hydrolysates | 1964 |
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Topics: Acetylglucosamine; Adolescent; Adult; Biomarkers; Case-Control Studies; Child; Child, Preschool; Congenital Disorders of Glycosylation; Dried Blood Spot Testing; Female; Humans; Infant; Male; Mass Spectrometry; Mutation; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase | 2019 |
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Topics: Acetylglucosamine; Animals; Congenital Disorders of Glycosylation; Disease Models, Animal; Genetic Therapy; Genetic Vectors; Gliosis; Humans; Inflammation; Injections, Intraventricular; Motor Activity; Neurons; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Rats; Rats, Transgenic; Transgenes | 2021 |