n-acetylneuraminic acid has been researched along with Lysosomal Enzyme Disorders in 31 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 20 (64.52) | 18.2507 |
| 2000's | 6 (19.35) | 29.6817 |
| 2010's | 4 (12.90) | 24.3611 |
| 2020's | 1 (3.23) | 2.80 |
| Authors | Studies |
|---|---|
| Sandhoff, K; Sandhoff, R | 1 |
| Biot, C; Foulquier, F; Gilormini, PA; Guérardel, Y; Lion, C; Vicogne, D | 1 |
| Kamerling, JP; Schauer, R | 1 |
| Courville, P; Quick, M; Reimer, RJ | 1 |
| Nishino, I | 1 |
| Real, FX; Ulloa, F | 1 |
| Kotani, M; Sakuraba, H; Yamada, H | 1 |
| Bonnet, V; Bouvier, R; Cheillan, D; Froissart, R; Maire, I; Piraud, M; Tourret, S | 1 |
| Bijlsma, EK; de Groot, AN; Janssens, PM; Kooper, AJ; Liebrand-van Sambeek, ML; Smits, AP; Tan-Sindhunata, GB; van den Berg, CJ; van den Berg, PP; Wevers, RA | 1 |
| Aula, P; Haataja, L; Laine, AP; Peltonen, L; Renlund, M; Schleutker, J; Weissenbach, J | 1 |
| Aula, P; Erikson, A; Leppänen, P; Månsson, JE; Peltonen, L; Schleutker, J; Weissenbach, J | 1 |
| Elleder, M; Kodet, R; Kraus, J | 1 |
| Jouan, H; Le Marec, B; Maire, I; Milon, J; Odent, S; Poulain, P; Proudhon, JF | 1 |
| Ohno, K; Yano, T | 1 |
| Chigorno, V; Sonnino, S; Tettamanti, G | 1 |
| Degen, I; Poets, CF; Pontz, BF; Sewell, AC; Stöss, H | 1 |
| Bernard, A; Froissart, R; Maire, I; Mandon, G; Piraud, M | 1 |
| Chigorno, V; Pitto, M; Renlund, M; Tettamanti, G | 1 |
| Burus, I; Molnár, D; Pintér, Z; Stankovics, J | 1 |
| Yamaguchi, S | 1 |
| Hirabayashi, Y; Jike, T; Nagatsuka, Y; Nakano, C; Nemoto, N; Ono, Y | 1 |
| Diettrich, O; Hasilik, A; Johnson, AW; Mills, K; Winchester, BG | 1 |
| Gagné, R; Lambert, M; Lemyre, E; Melançon, SB; Potier, M; Russo, P | 1 |
| Beerens, CE; Havelaar, AC; Mancini, GM; Verheijen, FW | 1 |
| Glössl, J; Mach, L; Paschke, E; Schmid, JA | 1 |
| Baba, ER; Bertola, DR; Burin, MG; Coelho, HC; Fensom, AH; Giugliani, R; Gonzales, CH; Kim, CA; Lewis, E; Marques-Dias, MJ; Ribeiro, EM; Sugayama, SM; Utagawa, CY | 1 |
| Aula, N; Aula, P; Mancini, G; Månsson, JE; Peltonen, L; Salomäki, P; Timonen, R; Verheijen, F | 1 |
| Bucourt, M; Carbillon, L; Largillière, C; Levaillant, JM; Scheuer-Niro, B; Uzan, M | 1 |
| Beemer, FA; Hu, P; Janse, HC; Jennekens, FG; Kleijer, WJ; Mancini, GM; van Diggelen, OP; Verheijen, FW | 1 |
| Aula, P; Beerens, CE; Mancini, GM; Renlund, M; Verheijen, FW | 1 |
| Aula, P; Haataja, L; Peltonen, L; Puhakka, L; Renlund, M; Schleutker, J; Viitala, J | 1 |
5 review(s) available for n-acetylneuraminic acid and Lysosomal Enzyme Disorders
| Article | Year |
|---|---|
Exploration of the Sialic Acid World.
Topics: Animals; Carbohydrate Conformation; Humans; Lysosomal Storage Diseases; Mucolipidoses; N-Acetylneuraminic Acid; Neoplasms; Sialic Acid Storage Disease | 2018 |
[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
Topics: Biological Transport; Cysteamine; Cystine; Cystinosis; Humans; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Sialic Acids | 1995 |
[Sialidosis].
Topics: Biomarkers; Diagnosis, Differential; Humans; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Neuraminidase; Prognosis | 1998 |
Clinical spectrum of infantile free sialic acid storage disease.
Topics: Ascites; Esophageal Atresia; Female; Fetal Diseases; Heart Failure; Humans; Hydrops Fetalis; Infant; Infant, Newborn; Lysosomal Storage Diseases; Male; N-Acetylneuraminic Acid; Nephrotic Syndrome | 1999 |
Sialic acid storage disorders: observations on clinical and biochemical variation.
Topics: Adult; Animals; Biological Transport, Active; Finland; Heterozygote; Humans; Infant; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Phenotype; Proteins; Rats; Sialic Acids | 1991 |
26 other study(ies) available for n-acetylneuraminic acid and Lysosomal Enzyme Disorders
| Article | Year |
|---|---|
Neuronal Ganglioside and Glycosphingolipid (GSL) Metabolism and Disease : Cascades of Secondary Metabolic Errors Can Generate Complex Pathologies (in LSDs).
Topics: Acid Ceramidase; Animals; Ceramides; Cholesterol; Chondroitin Sulfates; Gangliosides; Glycoproteins; Glycoside Hydrolases; Glycosphingolipids; Glycosyltransferases; Lysosomal Storage Diseases; Mammals; N-Acetylneuraminic Acid; Sphingomyelins; Sulfoglycosphingolipids | 2023 |
Chemical glycomics enrichment: imaging the recycling of sialic acid in living cells.
Topics: Case-Control Studies; Chemical Fractionation; Combinatorial Chemistry Techniques; Glycomics; Humans; Lysosomal Storage Diseases; Lysosomes; Metabolic Engineering; Metabolic Networks and Pathways; N-Acetylneuraminic Acid; Oligosaccharides; Single Molecule Imaging | 2018 |
Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes.
Topics: Amino Acid Sequence; Animals; Cysteine; Glucuronic Acid; Humans; Lysosomal Storage Diseases; Molecular Sequence Data; Mutation; N-Acetylneuraminic Acid; Organic Anion Transporters; Protein Isoforms; Protein Structure, Tertiary; Rats; Sequence Homology, Amino Acid; Structure-Activity Relationship; Symporters | 2010 |
[Elucidation of the pathomechanism for autophagic vacuolar myopathy and development of a therapy].
Topics: Animals; Glycogen Storage Disease Type IIb; Humans; Lysosomal Storage Diseases; Lysosomes; Mice; Muscular Diseases; Mutation; N-Acetylneuraminic Acid; Vacuolar Proton-Translocating ATPases; Vacuoles | 2010 |
Benzyl-N-acetyl-alpha-D-galactosaminide induces a storage disease-like phenotype by perturbing the endocytic pathway.
Topics: Acetylgalactosamine; Benzyl Compounds; Cytoplasmic Vesicles; Endocytosis; HT29 Cells; Humans; In Vitro Techniques; Integrin beta1; Lysosomal Storage Diseases; Membrane Glycoproteins; Mucin-1; N-Acetylneuraminic Acid; Phenotype; Protein Transport; Sialic Acid Storage Disease; Transport Vesicles | 2003 |
Cytochemical and biochemical detection of intracellularly accumulated sialyl glycoconjugates in sialidosis and galactosialidosis fibroblasts with Macckia amurensis.
Topics: Blotting, Western; Cells, Cultured; Clinical Laboratory Techniques; Fibroblasts; Galactose; Glycoconjugates; Humans; Lysosomal Storage Diseases; Maackia; Mucolipidoses; N-Acetylneuraminic Acid; Plant Lectins; Staining and Labeling | 2004 |
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
Topics: Female; Gene Deletion; Genotype; Gestational Age; Humans; Infant; Infant, Newborn; Lysosomal Storage Diseases; Male; Mutation; N-Acetylneuraminic Acid; Phenotype; Pregnancy; Prenatal Diagnosis; Sialic Acid Storage Disease | 2005 |
Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.
Topics: Amniotic Fluid; Cathepsin A; Cells, Cultured; Female; Gestational Age; Glycosaminoglycans; Humans; Hydrops Fetalis; Lysosomal Storage Diseases; Lysosomes; Mutation; N-Acetylneuraminic Acid; Oligosaccharides; Pregnancy; Prenatal Diagnosis; Reference Values; Risk Factors; Sialoglycoproteins | 2006 |
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.
Topics: Alleles; Chromosome Mapping; Chromosomes, Human, Pair 6; DNA; Female; Finland; Haplotypes; Humans; Linkage Disequilibrium; Lod Score; Lysosomal Storage Diseases; Male; N-Acetylneuraminic Acid; Sialic Acids | 1995 |
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.
Topics: Alleles; Chromosomes, Human, Pair 6; DNA, Satellite; Finland; Genetic Linkage; Haplotypes; Humans; Lod Score; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Phenotype; Polymorphism, Genetic; Sialic Acids; Sweden | 1995 |
Infantile sialic acid storage disease (ISSD). Report on first case in Czech Republic with biopsy and autopsy findings.
Topics: Child, Preschool; Female; Humans; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Sialic Acids | 1993 |
Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case).
Topics: Adult; Amniocentesis; Ascites; Cells, Cultured; Consanguinity; Facies; Female; Fetal Diseases; Fibroblasts; Humans; Liver; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Oligohydramnios; Pregnancy; Sialic Acids; Ultrasonography, Prenatal | 1995 |
Metabolic processing of gangliosides by normal and Salla human fibroblasts in culture. A study performed by administering radioactive GM3 ganglioside.
Topics: Adolescent; Animals; Cattle; Cells, Cultured; Child; DNA; Fibroblasts; G(M3) Ganglioside; Gangliosides; Humans; Lysosomal Storage Diseases; Male; N-Acetylneuraminic Acid; Proteins; Sialic Acids; Sialoglycoproteins; Sphingomyelins | 1996 |
The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients.
Topics: Abnormalities, Multiple; Adolescent; Cells, Cultured; Egypt; Fatal Outcome; Female; Fibroblasts; Finland; Follow-Up Studies; Humans; Infant; Infant, Newborn; Infant, Premature; Lymphocytes; Lysosomal Storage Diseases; Male; N-Acetylneuraminic Acid; Sialic Acids; Skin | 1996 |
Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis).
Topics: Amniotic Fluid; Cells, Cultured; Female; Glucuronidase; Glycosaminoglycans; Humans; Hydrops Fetalis; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Oligosaccharides; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal | 1996 |
Impairment of ganglioside metabolism in cultured fibroblasts from Salla patients.
Topics: Cells, Cultured; Fibroblasts; G(M1) Ganglioside; Humans; Lysosomal Storage Diseases; N-Acetylneuraminic Acid | 1996 |
Infantile sialic acid storage disease diagnosed by gas chromatography-mass spectroscopy analyses of urine sample.
Topics: Gas Chromatography-Mass Spectrometry; Humans; Infant; Lysosomal Storage Diseases; Male; N-Acetylneuraminic Acid | 1997 |
Establishment and characterization of an Epstein-Barr virus-transformed B cell line, KM/C8, from a patient with infantile sialic acid storage disease.
Topics: B-Lymphocytes; Cell Division; Cell Line, Transformed; Herpesvirus 4, Human; Humans; Infant; Lysosomal Storage Diseases; Lysosomes; Microscopy, Electron; N-Acetylneuraminic Acid; Neuraminidase; Vacuoles | 1998 |
Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders.
Topics: Cell Fractionation; Cells, Cultured; Chromatography, Affinity; Dextrans; Electrophoresis, Gel, Two-Dimensional; Endocytosis; Fibroblasts; Humans; Iron; Lysosomal Storage Diseases; Lysosomes; Magnetics; Mitochondria; N-Acetylneuraminic Acid | 1998 |
Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease.
Topics: Animals; Anions; Biological Transport; Carrier Proteins; Humans; Liver; Lysosomal Storage Diseases; Lysosomes; Membrane Proteins; N-Acetylneuraminic Acid; Nucleotide Transport Proteins; Rats; Substrate Specificity | 1999 |
Accumulation of sialic acid in endocytic compartments interferes with the formation of mature lysosomes. Impaired proteolytic processing of cathepsin B in fibroblasts of patients with lysosomal sialic acid storage disease.
Topics: Cathepsin B; Cell Compartmentation; Cell Line; Electrophoresis, Polyacrylamide Gel; Endocytosis; Fibroblasts; Humans; Hydrogen-Ion Concentration; Lysosomal Storage Diseases; Lysosomes; Molecular Weight; N-Acetylneuraminic Acid; Phenotype; Sucrose | 1999 |
Infantile sialic acid storage disease: report of the first case in South America.
Topics: Abnormalities, Multiple; Fatal Outcome; Female; Humans; Infant; Lysosomal Storage Diseases; N-Acetylneuraminic Acid | 1999 |
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Topics: Age of Onset; Alleles; Amino Acid Substitution; Base Sequence; DNA Mutational Analysis; Exons; Finland; Founder Effect; Gene Frequency; Genetic Testing; Heterozygote; Humans; Infant; Infant, Newborn; Introns; Lysosomal Storage Diseases; Membrane Transport Proteins; Mutation; N-Acetylneuraminic Acid; Organic Anion Transporters; Phenotype; Polymerase Chain Reaction; Protein Conformation; RNA, Messenger; Sweden; Symporters | 2000 |
Ultrasound assessment in a case of sialic acid storage disease.
Topics: Abnormalities, Multiple; Ascites; Female; Fetal Diseases; Humans; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Pregnancy; Ultrasonography, Prenatal | 2001 |
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.
Topics: Ataxia; Child, Preschool; Chorionic Villi; Fibroblasts; Genetic Carrier Screening; Humans; Intellectual Disability; Lysosomal Storage Diseases; Male; N-Acetylneuraminic Acid; Neutrophils; Prenatal Diagnosis; Sialic Acids; Skin | 1992 |
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.
Topics: Antigens, CD; Blotting, Southern; Chromosome Mapping; Chromosomes, Human, Pair 13; Genetic Linkage; Humans; Lysosomal Membrane Proteins; Lysosomal Storage Diseases; Lysosomes; Membrane Glycoproteins; N-Acetylneuraminic Acid; Sialic Acids; X Chromosome | 1991 |