Compounds > n-acetylneuraminic acid

n-acetylneuraminic acid and Metabolism, Inborn Errors

n-acetylneuraminic acid has been researched along with Metabolism, Inborn Errors in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19909 (60.00)18.7374
1990's5 (33.33)18.2507
2000's1 (6.67)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Argov, Z; Ben-Bassat, H; Dabby, R; Eisenberg, I; Hinderlich, S; Krause, S; Lochmuller, H; Mitrani-Rosenbaum, S; Reutter, W; Sadeh, M; Salama, I; Shlomai, Z; Yarema, K1
Chester, MA; Krusius, T; Lundblad, A; Parkkinen, J; Renlund, M1
Akagi, M; Kobayashi, T; Okamura-Oho, Y; Suzuki, Y; Yamanaka, T1
Diwadkar, V; Gahl, WA; Krasnewich, DM; Krause, W; Pretzlaff, R; Tietze, F; Wenger, DA1
Gahl, WA; Lehto, VP; Seppala, R1
Braga, AC; Ferreira, H; Gahl, WA; Gomes, L; Huizing, M; Krasnewich, DM; Martins, E; Pinto, R; Sa Miranda, MC; Seppala, R1
Choukroun, JB; Darbois, Y; Heron, D; Lefebvre, G; Vautjoer Brouzes, D; Wehbe, G1
Ashwell, G; Barsh, G; Gahl, WA; Krasnewich, D; Packman, S; Seppala, R; Thomas, GH; Tietze, F; Weiss, P1
Don, N; Greenaway, R; Hammond, J; Sosula, L; Wilcken, B1
Höfler, G; Paschke, E; Roscher, A1
Percy, AK1
Galjaard, H; Mancini, GM; Verheijen, FW1
Aula, P; Koskela, SL; Raivio, KO; Renlund, M1
Aula, P; Ehnholm, C; Gahmberg, CG; Kovanen, PT; Raivio, KO; Renlund, M1
Gahl, WA; Renlund, M; Tietze, F1

Other Studies

15 other study(ies) available for n-acetylneuraminic acid and Metabolism, Inborn Errors

ArticleYear
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
    Biochemical and biophysical research communications, 2005, Mar-04, Volume: 328, Issue:1

    Topics: Cell Membrane; Cells, Cultured; Humans; Metabolism, Inborn Errors; Multienzyme Complexes; Mutation; Myoblasts; Myositis, Inclusion Body; N-Acetylneuraminic Acid

2005
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism.
    European journal of biochemistry, 1983, Jan-17, Volume: 130, Issue:1

    Topics: Fibroblasts; Gangliosides; Glycopeptides; Humans; Liver; Lysosomes; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; N-Acylneuraminate Cytidylyltransferase; Neuraminidase; Oxo-Acid-Lyases; Phosphoric Diester Hydrolases; Sialic Acids

1983
A simple enzymatic determination of urinary sialic acid--its significance in the diagnosis of disorders of sialic acid metabolism.
    Clinica chimica acta; international journal of clinical chemistry, 1984, Dec-29, Volume: 144, Issue:2-3

    Topics: Adult; Child; Child, Preschool; Creatinine; Humans; Infant; Infant, Newborn; L-Lactate Dehydrogenase; Metabolism, Inborn Errors; Mucolipidoses; N-Acetylneuraminic Acid; Neuraminidase; Oxo-Acid-Lyases; Sialic Acids; Spectrophotometry, Ultraviolet

1984
Clinical and biochemical studies in an American child with sialuria.
    Biochemical medicine and metabolic biology, 1993, Volume: 49, Issue:1

    Topics: Cells, Cultured; Child, Preschool; Fibroblasts; Humans; Hydrogen-Ion Concentration; Male; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Sialic Acids

1993
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
    American journal of human genetics, 1999, Volume: 64, Issue:6

    Topics: Allosteric Site; Amino Acid Sequence; Base Sequence; Carbohydrate Epimerases; Carrier Proteins; Child, Preschool; DNA, Complementary; Female; Humans; Male; Metabolism, Inborn Errors; Molecular Sequence Data; Mutation; N-Acetylneuraminic Acid

1999
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
    Molecular genetics and metabolism, 1999, Volume: 67, Issue:2

    Topics: Abnormalities, Multiple; Carbohydrate Epimerases; Cells, Cultured; Child; Cytidine Monophosphate N-Acetylneuraminic Acid; Escherichia coli Proteins; Female; Fibroblasts; Humans; Intellectual Disability; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Point Mutation; Sialic Acids; Subcellular Fractions

1999
Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.
    Genetic counseling (Geneva, Switzerland), 1999, Volume: 10, Issue:3

    Topics: Adult; Diagnosis, Differential; Female; Fetal Diseases; Humans; Hydrops Fetalis; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Recurrence

1999
Sialic acid metabolism in sialuria fibroblasts.
    The Journal of biological chemistry, 1991, Apr-25, Volume: 266, Issue:12

    Topics: Child, Preschool; Chromatography, High Pressure Liquid; Cytidine; Female; Fibroblasts; Humans; Male; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Sialic Acids

1991
Sialuria: a second case.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:2

    Topics: Child, Preschool; Developmental Disabilities; Diagnosis, Differential; Female; Humans; Liver; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Sialic Acids

1987
The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:1

    Topics: Fibroblasts; Glucosamine; Humans; Infant; Male; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Sialic Acids; Uridine Diphosphate N-Acetylglucosamine; Uridine Diphosphate Sugars

1987
The inherited neurodegenerative disorders of childhood: clinical assessment.
    Journal of child neurology, 1987, Volume: 2, Issue:2

    Topics: Adrenoleukodystrophy; Brain Diseases, Metabolic; Child; Electroencephalography; Genetic Carrier Screening; Humans; Metabolism, Inborn Errors; Mucolipidoses; N-Acetylneuraminic Acid; Nerve Degeneration; Nervous System Diseases; Neuraminidase; Neuronal Ceroid-Lipofuscinoses; Prognosis; Sialic Acids; Sphingolipidoses; Tomography, X-Ray Computed

1987
Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.
    Human genetics, 1986, Volume: 73, Issue:3

    Topics: Biological Transport; Fibroblasts; Humans; Intracellular Membranes; Lysosomes; Metabolism, Inborn Errors; Mutation; N-Acetylneuraminic Acid; Sialic Acids

1986
Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland.
    Journal of mental deficiency research, 1986, Volume: 30 ( Pt 4)

    Topics: Adolescent; Adult; Aspartylglucosylaminase; Chromatography, Thin Layer; Female; Finland; Humans; Intellectual Disability; Male; Mass Screening; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Sialic Acids

1986
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.
    The Journal of clinical investigation, 1986, Volume: 77, Issue:2

    Topics: Cells, Cultured; Fibroblasts; Hexosamines; Humans; Lipoproteins, LDL; Lysosomes; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Sialic Acids; Tritium

1986
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.
    Science (New York, N.Y.), 1986, May-09, Volume: 232, Issue:4751

    Topics: Cell Fractionation; Fibroblasts; Hexosamines; Humans; Lysosomes; Metabolism, Inborn Errors; N-Acetylneuraminic Acid; Sialic Acids; Subcellular Fractions

1986