Compounds > n-acetylneuraminic acid

n-acetylneuraminic acid and Abnormalities, Multiple

n-acetylneuraminic acid has been researched along with Abnormalities, Multiple in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's4 (80.00)18.2507
2000's1 (20.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Barabino, A; Borrone, C; Di Rocco, M; Gandullia, P; Gatti, R; Picco, P1
Degen, I; Poets, CF; Pontz, BF; Sewell, AC; Stöss, H1
Braga, AC; Ferreira, H; Gahl, WA; Gomes, L; Huizing, M; Krasnewich, DM; Martins, E; Pinto, R; Sa Miranda, MC; Seppala, R1
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, CY1
Bucourt, M; Carbillon, L; Largillière, C; Levaillant, JM; Scheuer-Niro, B; Uzan, M1

Other Studies

5 other study(ies) available for n-acetylneuraminic acid and Abnormalities, Multiple

ArticleYear
Report on two patients with Costello syndrome and sialuria.
    American journal of medical genetics, 1993, Nov-15, Volume: 47, Issue:7

    Topics: Abnormalities, Multiple; Child, Preschool; Face; Feeding and Eating Disorders; Female; Growth Disorders; Humans; Intellectual Disability; Limb Deformities, Congenital; Male; N-Acetylneuraminic Acid; Nose Neoplasms; Papilloma; Sialic Acids; Skin Abnormalities; Syndrome

1993
The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients.
    American journal of medical genetics, 1996, May-03, Volume: 63, Issue:1

    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
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
Infantile sialic acid storage disease: report of the first case in South America.
    Clinical genetics, 1999, Volume: 55, Issue:5

    Topics: Abnormalities, Multiple; Fatal Outcome; Female; Humans; Infant; Lysosomal Storage Diseases; N-Acetylneuraminic Acid

1999
Ultrasound assessment in a case of sialic acid storage disease.
    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2001, Volume: 18, Issue:3

    Topics: Abnormalities, Multiple; Ascites; Female; Fetal Diseases; Humans; Lysosomal Storage Diseases; N-Acetylneuraminic Acid; Pregnancy; Ultrasonography, Prenatal

2001