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cytidine monophosphate n-acetylneuraminic acid and Inborn Errors of Metabolism

cytidine monophosphate n-acetylneuraminic acid has been researched along with Inborn Errors of Metabolism in 2 studies

Research

Studies (2)

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

Authors

AuthorsStudies
Braga, AC; Ferreira, H; Gahl, WA; Gomes, L; Huizing, M; Krasnewich, DM; Martins, E; Pinto, R; Sa Miranda, MC; Seppala, R1
Dacremont, G; De Simpel, H; Gahl, WA; Huizing, M; Krasnewich, DM; Leroy, JG; Orvisky, E; Seppala, R; Van Coster, RN1

Other Studies

2 other study(ies) available for cytidine monophosphate n-acetylneuraminic acid and Inborn Errors of Metabolism

ArticleYear
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
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
    American journal of human genetics, 2001, Volume: 68, Issue:6

    Topics: Adult; Base Sequence; Carbohydrate Epimerases; Child; Child, Preschool; Cytidine Monophosphate N-Acetylneuraminic Acid; Cytoplasm; Developmental Disabilities; Escherichia coli Proteins; Feedback; Female; Fibroblasts; France; Genes, Dominant; Heterozygote; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Middle Aged; Molecular Sequence Data; Mutation, Missense; Pedigree; Sialic Acids; Uridine Diphosphate N-Acetylglucosamine

2001