uridine diphosphate galactose has been researched along with Carbohydrate-Deficient Glycoprotein Syndrome in 4 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (25.00) | 29.6817 |
| 2010's | 3 (75.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Agadi, S; Almannai, M; Bacino, CA; Barone, R; Botto, LD; Burton, JE; Carlston, C; Chung, BH; Cohen, JS; Coman, D; Dipple, KM; Dobyns, WB; Dorrani, N; Edmondson, AC; Elias, AF; Epstein, L; Freeze, HH; Gahl, WA; Garozzo, D; Grunewald, S; Guillen Sacoto, MJ; Hammer, TB; Haven, J; Héron, D; Herzog, M; Hoganson, GE; Hunter, JM; Jain, M; Juusola, J; Lakhani, S; Lee, H; Lee, J; Lewis, K; Longo, N; Lourenço, CM; Mak, CCY; McKnight, D; Mendelsohn, BA; Mignot, C; Mirzaa, G; Mitchell, W; Muhle, H; Nelson, SF; Ng, BG; Olczak, M; Palmer, CGS; Partikian, A; Patterson, MC; Pierson, TM; Powis, Z; Quinonez, SC; Regan, BM; Rosenfeld, JA; Ross, ME; Scaglia, F; Scheffer, IE; Segal, D; Singhal, NS; Sosicka, P; Striano, P; Sturiale, L; Suchy, SF; Symonds, JD; Tang, S; Vilain, E; Willis, M; Wolfe, LA; Yang, H; Yano, S | 1 |
| Altassan, R; Beamer, L; Bird, MJ; Cassiman, D; Edmondson, AC; Eminoglu, TF; Emmerzaal, TL; Felgueira, C; Ghesquière, B; Hertecant, J; Himmelreich, N; Honzik, T; James, PM; Kozicz, T; Morava, E; Poschet, G; Radenkovic, S; Sabbagh, L; Stiers, KM; Thiel, C; Verheijen, J; Vermeersch, P; Windmolders, P; Witters, P; Wong, SY | 1 |
| Bamshad, MJ; Buckingham, KJ; Chong, JX; Eroshkin, A; Freeze, HH; Gilbert, RD; He, M; Kircher, M; Kozenko, M; Li, C; Losfeld, ME; Ng, BG; Nickerson, DA; Patterson, MC; Raymond, K; Shendure, J; Smith, JD; Szybowska, M; Turner, EH | 1 |
| Berger, EG; Hansske, B; Hasilik, M; Heidemann, PH; Hoffmann, GF; Höning, S; Körner, C; Lübke, T; Peters, V; Thiel, C; von Figura, K | 1 |
4 other study(ies) available for uridine diphosphate galactose and Carbohydrate-Deficient Glycoprotein Syndrome
| Article | Year |
|---|---|
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Topics: Animals; Biopsy; Cells, Cultured; CHO Cells; Congenital Disorders of Glycosylation; Cricetulus; Female; Humans; Male; Monosaccharide Transport Proteins; Mutation; Uridine Diphosphate Galactose | 2019 |
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Topics: Cells, Cultured; Cohort Studies; Congenital Disorders of Glycosylation; Fibroblasts; Galactose; Glycosylation; Humans; Phosphoglucomutase; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose | 2019 |
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Topics: Biological Transport; Case-Control Studies; Child; Child, Preschool; Congenital Disorders of Glycosylation; Exome; Female; Glycosylation; Humans; Male; Monosaccharide Transport Proteins; Mosaicism; Mutation; Spectrometry, Mass, Electrospray Ionization; Transferrin; Uridine Diphosphate Galactose | 2013 |
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
Topics: beta-N-Acetylglucosaminylglycopeptide beta-1,4-Galactosyltransferase; Cells, Cultured; Child, Preschool; Chromatography, Affinity; Congenital Disorders of Glycosylation; Fibroblasts; Galactose; Glycoproteins; Golgi Apparatus; Humans; Immunohistochemistry; Infant; Leukocytes; Male; Protein Transport; Skin; Transferrin; Uridine Diphosphate Galactose | 2002 |