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cytidine monophosphate n-acetylneuraminic acid and Deficiency, Mental

cytidine monophosphate n-acetylneuraminic acid has been researched along with Deficiency, Mental in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ashikov, A; de Brouwer, AP; Deen, PM; Gerardy-Schahn, R; Guillard, M; Lefeber, DJ; Mohamed, M; Morava, E; Robben, JH; Schmidt, S; van den Heuvel, B; Wevers, RA1
Braga, AC; Ferreira, H; Gahl, WA; Gomes, L; Huizing, M; Krasnewich, DM; Martins, E; Pinto, R; Sa Miranda, MC; Seppala, R1

Other Studies

2 other study(ies) available for cytidine monophosphate n-acetylneuraminic acid and Deficiency, Mental

ArticleYear
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.
    Neurology, 2013, Aug-13, Volume: 81, Issue:7

    Topics: Adolescent; Blotting, Western; Child; Cytidine Monophosphate N-Acetylneuraminic Acid; DNA Mutational Analysis; Female; Glycosylation; Hemorrhagic Disorders; Humans; Intellectual Disability; Male; Mutation, Missense; Nucleotide Transport Proteins; Pedigree; Polymorphism, Single Nucleotide; Young Adult

2013
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