n-acetylneuraminic acid and French Type Sialuria

n-acetylneuraminic acid has been researched along with French Type Sialuria in 42 studies

Research

Studies (42)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	27 (64.29)	29.6817
2010's	13 (30.95)	24.3611
2020's	2 (4.76)	2.80

Authors

Authors	Studies
Bernard, G; Chapleau, A; Mirchi, A; Poulin, C; Tran, LT	1
Adams, DR; Gahl, WA; Hackbarth, ME; Huizing, M; Patterson, MC; Walkley, SU; Wasserstein, M	1
Garbade, SF; Hoffmann, GF; Kölker, S; Ries, M; Zielonka, M	1
Kamerling, JP; Schauer, R	1
Abu Bakar, N; Brand-Arzamendi, K; Da Silva, A; de Brouwer, A; Drögemöller, B; El-Rass, S; Engelke, U; Hoskings, M; Huijben, K; Karbassi, F; Lefeber, DJ; Lehman, AM; Moreland, J; Ng, R; Pan, X; Philip, AM; Pshezhetsky, AV; Rakic, B; Ross, CJ; Selby, K; Tarailo-Graovac, M; Vallance, H; van Karnebeek, CD; van Scherpenzeel, M; Wasserman, WW; Wen, XY; Wevers, RA; Willems, A; Ye, XC; Yun, J; Zijlstra, F	1
Bóveda, MD; Castiñeiras, DE; Coll, MJ; Couce, ML; Fernández-Marmiesse, A; Fraga, JM; Macías-Vidal, J	1
Basehore, M; Champaigne, NL; Chaubey, A; Chen, N; Decaestecker, J; Friez, MJ; Goldstein, JL; Hu, H; Huizing, M; Kishnani, PS; Leroy, JG; Li, J; Libbrecht, L; Pollard, L; Steenkiste, E; Stevenson, RE; Van Dorpe, J; Verslype, C; Wood, T	1
Bennmann, D; Bork, K; Horstkorte, R; Kannicht, C; Kohla, G; Kreuzmann, D; Thate, A	1
Blomqvist, M; Darin, N; Drögemöller, BI; Kollberg, G; Ross, CJ; Tarailo-Graovac, M; van den Ouweland, AM; van Karnebeek, CD; Wasserman, WW	1
Abu-Asab, M; Adams, DR; Barritault, J; Benko, WS; Ding, J; Engelke, UF; Huizing, M; Kaneski, CR; McNeill, NH; Mochel, F; Schiffmann, R; Seguin, F; Thompson, JN; Tsokos, M; Verheijen, FW; Wevers, RA; Yang, B	1
Huizing, M; Kurochkina, N; Yardeni, T	1
Barritault, J; Engelke, UF; McNeill, NH; Mochel, F; Schiffmann, R; Seguin, F; Thompson, JN; Vanderver, A; Verheijen, FW; Wevers, RA; Willemsen, MA; Wolf, NI; Yang, B	1
de Koning, TJ; de Sain-van der Velden, MG; Fleer, A; Lefeber, D; Prinsen, BH; van der Ham, M	1
Miyaji, T; Moriyama, Y; Omote, H	1
Benoist, JF; Imbard, A; Porquet, D; Rigal, O; Schlemmer, D; Tebani, A	1
Adams, D; Ambudkar, IS; Deng, D; Ding, G; Fan, Z; Gahl, WA; Gu, L; He, J; Jin, L; Liu, X; Ong, HL; Qi, S; Qin, L; Sun, Q; Wang, S; Xia, D; Zhang, C; Zheng, C	1
Real, FX; Ulloa, F	1
Aula, N; Aula, P; Erikson, A; Månsson, JE	1
Autti, T; Linnankivi, T; Lönnqvist, T	1
Arena, S; Filocamo, M; Mancini, GM; Marchetti, L; Menni, F; Parazzini, C; Parini, R; Triulzi, F; Verheijen, FW	1
Gahl, WA; Huizing, M; Kleta, R; Krasnewich, D; Martin, RA; Natowicz, M; Orvisky, E; Pearlman, K; Slaugh, R	1
Anikster, Y; Aughton, DJ; Gahl, WA; Huizing, M; Kleta, R; Krasnewich, D; Natowicz, M; Orvisky, E; Rivkin, MJ; Strovel, E	1
Strehle, EM	1
Abeling, NG; Duran, M; Huijmans, JG; Kulik, W; Valianpour, F	1
Aula, N; Jalanko, A; Kopra, O; Peltonen, L	1
Alroy, J; Bernardini, I; Gahl, WA; Kleta, R; Krasnewich, D; Morse, RP; Orvisky, E; Ucci, AA; Wenger, DA	1
Birk, OS; Cohen, D; Landau, D; Pinsk, V; Shalev, H; Yerushalmi, B; Zeigler, M	1
Reimer, RJ; Wlizla, M; Wreden, CC	1
Akioka, S; Fukushige, T; Imada, M; Ishiwari, K; Itoh, K; Kanzaki, T; Kobayashi, T; Kotani, M; Pumbo, E; Sakuraba, H; Suzuki, A; Suzuki, M; Tajima, Y; Ueno, T	1
Bonnet, V; Bouvier, R; Cheillan, D; Froissart, R; Maire, I; Piraud, M; Tourret, S	1
Suwannarat, P	1
Bork, K; Gerardy-Schahn, R; Horstkorte, R; Reutter, W	1
Assereto, S; Biancheri, R; Corsolini, F; Filocamo, M; Mancini, GM; Minetti, C; Rossi, A; Schot, R; Verbeek, HA; Verheijen, FW	1
Alroy, J; Gahl, WA; Kleta, R; Morse, RP	1
Crook, MA; Gopaul, KP	1
Aula, N; Aula, P	1
Abd Hamid, UM; Critchley, A; Dwek, RA; Huijben, KM; Lagerwerf, AJ; Lefeber, DJ; Leroy, JG; Morava, E; Royle, L; Rudd, PM; Wevers, RA; Wilcken, B; Wopereis, S	1
Abeling, NG; Berger, R; de Koning, TJ; de Sain-van der Velden, MG; Dorland, B; Huijmans, JG; Prinsen, BH; van der Ham, M	1
Bork, K; Horstkorte, R; Reutter, W; Weidemann, W	1
Aydin, H; Cördükcü, E; Coskun, T; Gumruk, F; Gurgey, A; Kuskonmaz, B; Unal, S	1
Iles, RA; Murphy, HC; Sewell, AC	1
Alajoki, LE; Aula, PP; Korhonen, TT; Nyman, SR; Posti, KM; Renlund, MG; Sillanpää, ML; Varho, TT	1

Reviews

5 review(s) available for n-acetylneuraminic acid and French Type Sialuria

Article	Year
Free sialic acid storage disorder: Progress and promise. Neuroscience letters, 2021, 06-11, Volume: 755 Topics: Animals; Genetic Therapy; Humans; N-Acetylneuraminic Acid; Organic Anion Transporters; Sialic Acid Storage Disease; Stem Cell Transplantation; Symporters	2021
Exploration of the Sialic Acid World. Advances in carbohydrate chemistry and biochemistry, 2018, Volume: 75 Topics: Animals; Carbohydrate Conformation; Humans; Lysosomal Storage Diseases; Mucolipidoses; N-Acetylneuraminic Acid; Neoplasms; Sialic Acid Storage Disease	2018
Sialic acid storage disease and related disorders. Genetic testing, 2003,Summer, Volume: 7, Issue:2 Topics: Amino Acid Transport Systems, Neutral; Chromosomes, Human, Pair 6; Cystinosis; Female; Glycoproteins; Humans; Infant; Lysosomes; Male; Membrane Proteins; Membrane Transport Proteins; Mucolipidoses; N-Acetylneuraminic Acid; Organic Anion Transporters; Sialic Acid Storage Disease; Symporters	2003
Disorders of free sialic acid. Molecular genetics and metabolism, 2005, Volume: 85, Issue:2 Topics: Humans; Lysosomes; N-Acetylneuraminic Acid; Sialic Acid Storage Disease	2005
The inborn errors of sialic acid metabolism and their laboratory investigation. Clinical laboratory, 2006, Volume: 52, Issue:3-4 Topics: Chemistry, Clinical; Humans; Mass Screening; Mucolipidoses; N-Acetylneuraminic Acid; Prenatal Diagnosis; Sialic Acid Storage Disease	2006

Other Studies

37 other study(ies) available for n-acetylneuraminic acid and French Type Sialuria

Article	Year
Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease. Pediatric neurology, 2023, Volume: 148 Topics: Adolescent; Child; Child, Preschool; Disease Progression; Humans; Mutation; N-Acetylneuraminic Acid; Sialic Acid Storage Disease	2023
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder. Genetics in medicine : official journal of the American College of Medical Genetics, 2019, Volume: 21, Issue:2 Topics: Age of Onset; Biomarkers; Child; Child, Preschool; Cohort Studies; Cross-Sectional Studies; Delayed Diagnosis; Female; Humans; Infant; Male; N-Acetylneuraminic Acid; Phenotype; Pregnancy; Prenatal Diagnosis; Sialic Acid Storage Disease; Survival Analysis	2019
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function. JCI insight, 2018, 12-20, Volume: 3, Issue:24 Topics: Adult; Animals; Disease Models, Animal; Edema, Cardiac; Gene Expression Regulation, Developmental; Gene Knockdown Techniques; Genetic Diseases, Inborn; HEK293 Cells; Hexosamines; Humans; Male; Muscle, Skeletal; Muscular Diseases; Mutation; N-Acetylneuraminic Acid; Oxo-Acid-Lyases; Sialic Acid Storage Disease; Young Adult; Zebrafish	2018
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. European journal of medical genetics, 2014, Volume: 57, Issue:9 Topics: Amino Acid Sequence; DNA Mutational Analysis; Early Diagnosis; Female; Humans; Incidental Findings; Infant; Infant, Newborn; Molecular Sequence Data; Mutation; N-Acetylneuraminic Acid; Neonatal Screening; Organic Anion Transporters; Sequence Alignment; Sialic Acid Storage Disease; Symporters	2014
New observation of sialuria prompts detection of liver tumor in previously reported patient. Molecular genetics and metabolism, 2016, Volume: 118, Issue:2 Topics: Bile Duct Neoplasms; Child; Cholangiocarcinoma; Exome Sequencing; Female; Hepatomegaly; Heterozygote; Humans; Liver; Liver Neoplasms; Male; Middle Aged; N-Acetylneuraminic Acid; Rare Diseases; Retrospective Studies; Risk Factors; Sialic Acid Storage Disease; Young Adult	2016
Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria. Chembiochem : a European journal of chemical biology, 2017, 07-04, Volume: 18, Issue:13 Topics: Age Factors; Animals; Brain; Disease Models, Animal; Feedback, Physiological; Humans; Leukocytes; Liver; Mice; Mice, Transgenic; Multienzyme Complexes; Mutation; N-Acetylneuraminic Acid; Neural Cell Adhesion Molecules; Organ Specificity; Protein Processing, Post-Translational; Sialic Acid Storage Disease	2017
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease. Orphanet journal of rare diseases, 2017, 02-10, Volume: 12, Issue:1 Topics: DNA Transposable Elements; Exome Sequencing; Exons; Fibroblasts; Humans; Introns; Male; N-Acetylneuraminic Acid; Organic Anion Transporters; Polymerase Chain Reaction; Sialic Acid Storage Disease; Skin; Symporters	2017
Free sialic acid storage disease without sialuria. Annals of neurology, 2009, Volume: 65, Issue:6 Topics: Adolescent; Child; Diagnosis, Differential; Hereditary Central Nervous System Demyelinating Diseases; Humans; N-Acetylneuraminic Acid; Nuclear Magnetic Resonance, Biomolecular; Organic Anion Transporters; Sialic Acid Storage Disease; Symporters; Young Adult	2009
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. Glycobiology, 2010, Volume: 20, Issue:3 Topics: Amino Acid Sequence; Humans; Models, Molecular; Molecular Sequence Data; Multienzyme Complexes; Muscular Diseases; Mutation; N-Acetylneuraminic Acid; Protein Conformation; Sialic Acid Storage Disease	2010
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases. Neurology, 2010, Jan-26, Volume: 74, Issue:4 Topics: Child; Child, Preschool; Cross-Sectional Studies; Demyelinating Diseases; Dipeptides; Female; Genetic Testing; Genotype; Humans; Infant; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Mutation; N-Acetylneuraminic Acid; Organic Anion Transporters; Sialic Acid Storage Disease; Symporters; Young Adult	2010
Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2010, May-01, Volume: 878, Issue:15-16 Topics: Brain Neoplasms; Chromatography, High Pressure Liquid; Humans; Leukemia; Meningitis; N-Acetylneuraminic Acid; Reproducibility of Results; Sensitivity and Specificity; Sialic Acid Storage Disease; Tandem Mass Spectrometry	2010
A vesicular transporter that mediates aspartate and glutamate neurotransmission. Biological & pharmaceutical bulletin, 2010, Volume: 33, Issue:11 Topics: Animals; Aspartic Acid; Biological Transport; Glutamic Acid; Hippocampus; Humans; Mutation; N-Acetylneuraminic Acid; Organic Anion Transporters; Pineal Gland; Sialic Acid Storage Disease; Synaptic Transmission; Synaptic Vesicles	2010
Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2011, Dec-01, Volume: 879, Issue:31 Topics: Carbon Isotopes; Chromatography, High Pressure Liquid; Chromatography, Reverse-Phase; Creatinine; Drug Stability; Humans; Least-Squares Analysis; N-Acetylneuraminic Acid; Reproducibility of Results; Sensitivity and Specificity; Sialic Acid Storage Disease; Tandem Mass Spectrometry	2011
Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. Proceedings of the National Academy of Sciences of the United States of America, 2012, Aug-14, Volume: 109, Issue:33 Topics: Acids; Adenoviridae; Animals; Anion Transport Proteins; Anions; Biological Transport; Cell Membrane; Fibroblasts; Intracellular Space; Mutation; N-Acetylneuraminic Acid; Nitrate Transporters; Nitrates; Organic Anion Transporters; Protons; Sialic Acid Storage Disease; Submandibular Gland; Sus scrofa; Symporters	2012
Benzyl-N-acetyl-alpha-D-galactosaminide induces a storage disease-like phenotype by perturbing the endocytic pathway. The Journal of biological chemistry, 2003, Apr-04, Volume: 278, Issue:14 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
Free sialic acid storage (Salla) disease in Sweden. Acta paediatrica (Oslo, Norway : 1992), 2002, Volume: 91, Issue:12 Topics: Female; Fibroblasts; Humans; Male; Mutation; N-Acetylneuraminic Acid; Prevalence; Seroepidemiologic Studies; Sialic Acid Storage Disease; Sweden	2002
A case of Salla disease with involvement of the cerebellar white matter. Neuroradiology, 2003, Volume: 45, Issue:2 Topics: Cerebellum; Child, Preschool; Female; Humans; Magnetic Resonance Imaging; N-Acetylneuraminic Acid; Sialic Acid Storage Disease	2003
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features. AJNR. American journal of neuroradiology, 2003, Volume: 24, Issue:3 Topics: Brain; Brain Diseases, Metabolic, Inborn; Chromosome Deletion; Chromosomes, Human, Pair 6; Diagnosis, Differential; Echoencephalography; Exons; Fatal Outcome; Female; Frameshift Mutation; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Microcephaly; N-Acetylneuraminic Acid; Sialic Acid Storage Disease	2003
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. American journal of medical genetics. Part A, 2003, Jul-01, Volume: 120A, Issue:1 Topics: Diseases in Twins; Female; Fibroblasts; Genes, Recessive; Humans; Models, Biological; Mutation; N-Acetylneuraminic Acid; Organic Anion Transporters; Phenotype; Sialic Acid Storage Disease; Symporters; Twins, Monozygotic; United States	2003
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. American journal of medical genetics. Part A, 2003, Jul-01, Volume: 120A, Issue:1 Topics: Base Sequence; Child, Preschool; Diagnosis, Differential; DNA Mutational Analysis; Exons; Facies; Female; Fibroblasts; Heterozygote; Humans; Infant; Introns; Lysosomes; Male; Molecular Sequence Data; Mutation; N-Acetylneuraminic Acid; Organic Anion Transporters; Polymerase Chain Reaction; Sialic Acid Storage Disease; Subcellular Fractions; Symporters	2003
Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease. Clinical chemistry, 2004, Volume: 50, Issue:2 Topics: Child; Child, Preschool; Chromatography, High Pressure Liquid; Humans; Infant; Infant, Newborn; N-Acetylneuraminic Acid; Reproducibility of Results; Sialic Acid Storage Disease; Spectrometry, Mass, Electrospray Ionization; Sugar Acids	2004
Sialin expression in the CNS implicates extralysosomal function in neurons. Neurobiology of disease, 2004, Volume: 15, Issue:2 Topics: Animals; Biomarkers; Brain; Cell Differentiation; Cell Membrane; Cerebral Cortex; Fetus; HeLa Cells; Hippocampus; Humans; Immunohistochemistry; Lysosomes; Mice; N-Acetylneuraminic Acid; Neurites; Neuroglia; Neurons; Organic Anion Transporters; Presynaptic Terminals; Sialic Acid Storage Disease; Symporters	2004
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Molecular genetics and metabolism, 2004, Volume: 82, Issue:2 Topics: Base Sequence; Brain; Child, Preschool; DNA Mutational Analysis; Exons; Female; Fibroblasts; Humans; Infant; Lysosomes; Male; N-Acetylneuraminic Acid; Organic Anion Transporters; Radionuclide Imaging; Sialic Acid Storage Disease; Skin; Symporters	2004
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. Molecular genetics and metabolism, 2004, Volume: 82, Issue:2 Topics: Adult; Arabs; Base Sequence; Child, Preschool; Consanguinity; Female; Genetic Markers; Humans; Infant; Male; Mutation; N-Acetylneuraminic Acid; Organic Anion Transporters; Phenotype; Polymorphism, Genetic; Sialic Acid Storage Disease; Symporters	2004
Varied mechanisms underlie the free sialic acid storage disorders. The Journal of biological chemistry, 2005, Jan-14, Volume: 280, Issue:2 Topics: Amino Acid Sequence; Biological Transport; Cell Membrane; Conserved Sequence; Endoplasmic Reticulum; HeLa Cells; Humans; Hydrogen-Ion Concentration; Molecular Sequence Data; Mutation; N-Acetylneuraminic Acid; Organic Anion Transporters; Protein Structure, Tertiary; Protein Transport; Sialic Acid Storage Disease; Symporters	2005
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. Journal of human genetics, 2004, Volume: 49, Issue:12 Topics: Biological Transport; Child, Preschool; Endothelial Cells; Humans; Japan; Kidney Diseases; Kidney Tubules; Lysosomes; Male; N-Acetylneuraminic Acid; Sialic Acid Storage Disease	2004
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. Journal of medical genetics, 2005, Volume: 42, Issue:11 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
The intracellular concentration of sialic acid regulates the polysialylation of the neural cell adhesion molecule. FEBS letters, 2005, Sep-12, Volume: 579, Issue:22 Topics: Animals; CHO Cells; Cricetinae; Humans; Multienzyme Complexes; N-Acetylneuraminic Acid; Neural Cell Adhesion Molecules; Sialic Acid Storage Disease; Sialyltransferases	2005
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. Neurogenetics, 2005, Volume: 6, Issue:4 Topics: Brain; Child, Preschool; Genotype; Homozygote; Humans; Italy; Lysosomes; Magnetic Resonance Imaging; Male; Mutation; N-Acetylneuraminic Acid; Organic Anion Transporters; Phenotype; Sialic Acid Storage Disease; Symporters	2005
Novel form of intermediate salla disease: clinical and neuroimaging features. Journal of child neurology, 2005, Volume: 20, Issue:10 Topics: Brain; Humans; Infant; Magnetic Resonance Imaging; Male; Microscopy, Electron; N-Acetylneuraminic Acid; Phenotype; Severity of Illness Index; Sialic Acid Storage Disease; Skin	2005
Prenatal diagnosis of free sialic acid storage disorders (SASD). Prenatal diagnosis, 2006, Volume: 26, Issue:8 Topics: Adult; Amniocentesis; Amniotic Fluid; Cells, Cultured; Chorionic Villi; Chorionic Villi Sampling; DNA; DNA Mutational Analysis; Female; Fetal Diseases; Genetic Linkage; Humans; N-Acetylneuraminic Acid; Organic Anion Transporters; Pregnancy; Prenatal Diagnosis; Sialic Acid Storage Disease; Symporters	2006
Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. Biochimica et biophysica acta, 2006, Volume: 1762, Issue:6 Topics: Apolipoprotein C-III; Apolipoproteins C; Chromatography, High Pressure Liquid; Glycoproteins; Glycosylation; Humans; Isoelectric Focusing; N-Acetylneuraminic Acid; Nucleotides; Polysaccharides; Protein Isoforms; Sialic Acid Storage Disease; Transferrin	2006
Quantification of free and total sialic acid excretion by LC-MS/MS. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2007, Apr-01, Volume: 848, Issue:2 Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Chromatography, Liquid; Chromatography, Thin Layer; Humans; Infant; Infant, Newborn; Middle Aged; N-Acetylneuraminic Acid; Reproducibility of Results; Sialic Acid Storage Disease; Tandem Mass Spectrometry	2007
Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells. FEBS letters, 2007, Sep-04, Volume: 581, Issue:22 Topics: Animals; Bromodeoxyuridine; Carbohydrate Epimerases; Cell Proliferation; CHO Cells; Cricetinae; Cricetulus; Culture Media, Conditioned; DNA; Erythropoietin; Humans; Isoelectric Focusing; Models, Biological; Mutation; N-Acetylneuraminic Acid; Rats; Recombinant Proteins; Sialic Acid Storage Disease	2007
Lymphocytic vacuolization in sialic acid storage disease. American journal of hematology, 2008, Volume: 83, Issue:10 Topics: Consanguinity; Humans; Infant; Leukocyte Disorders; Lymphocytes; Male; N-Acetylneuraminic Acid; Sialic Acid Storage Disease	2008
Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease. Clinical chemistry, 2002, Volume: 48, Issue:2 Topics: Humans; Infant; Magnetic Resonance Spectroscopy; N-Acetylneuraminic Acid; Sialic Acid Storage Disease	2002
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. Pediatric neurology, 2002, Volume: 26, Issue:4 Topics: Adolescent; Adult; Child; Child, Preschool; Cross-Sectional Studies; Female; Humans; Infant; Male; Middle Aged; Mutation; N-Acetylneuraminic Acid; Phenotype; Sialic Acid Storage Disease; Statistics, Nonparametric	2002