galactose has been researched along with Carbohydrate-Deficient Glycoprotein Syndrome in 12 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (8.33) | 18.2507 |
| 2000's | 1 (8.33) | 29.6817 |
| 2010's | 7 (58.33) | 24.3611 |
| 2020's | 3 (25.00) | 2.80 |
| Authors | Studies |
|---|---|
| Barone, R; Edmondson, A; Grønborg, S; He, M; Hoganson, G; Lewis, AM; Morava, E; Mori, M; Õunap, K; Salvarinova, R; Scaglia, F; Sykut-Cegielska, J; Tahata, S; Witters, P | 1 |
| Andersson, H; Cassiman, D; Jaeken, J; Lefeber, DJ; Morava, E; Tseng, L; van Karnebeek, CDM; Witters, P | 1 |
| Conte, F; Lefeber, DJ; van Buuringen, N; Voermans, NC | 1 |
| Cassiman, D; Climer, L; Foulquier, F; Gadomski, T; Jaeken, J; Lupashin, V; Matthijs, G; Morava, E; Morelle, W; Potelle, S; Witters, P; Wong, S | 1 |
| Andreotti, G; Brasil, S; Dos Reis Ferreira, V; Francisco, R; Jaeken, J; Marques-da-Silva, D; Morava, E; Pascoal, C; Videira, PA | 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 |
| Balakrishnan, B; Carter, KL; Kozicz, T; Lai, K; Lupo, A; Morava, E; Raymond, K; Turgeon, C; Verheijen, J; Whitehead, KJ; Yang, Y | 1 |
| Morava, E | 1 |
| Biskup, S; Dörre, K; Fiedler, B; Grüneberg, M; Hörtnagel, K; Kurlemann, G; Marquardt, T; Olczak, M; Reunert, J; Rust, S; Sosicka, P; Wada, Y | 1 |
| Beaulieu, CL; Biskup, S; Boycott, KM; DuChesne, I; Fiedler, B; Gleixner, EM; Grüneberg, M; Hogrebe, M; Hörtnagel, K; Innes, AM; Kurlemann, G; Marquardt, T; Mhanni, AA; Nebert, DW; Omran, H; Park, JH; Reunert, J; Rust, S; Rutsch, F; Santer, R; Schlingmann, KP; Tsiakas, K; von der Heiden, AL; Wada, Y | 1 |
| Guthenberg, C; Kristiansson, B; Stibler, H; von Döbeln, U | 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 |
3 review(s) available for galactose and Carbohydrate-Deficient Glycoprotein Syndrome
| Article | Year |
|---|---|
Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look.
Topics: Congenital Disorders of Glycosylation; Galactose; Glycosylation; Homeostasis; Humans; Metabolic Diseases | 2021 |
CDG Therapies: From Bench to Bedside.
Topics: Animals; Biomarkers; Clinical Trials as Topic; Congenital Disorders of Glycosylation; Dietary Supplements; Disease Models, Animal; Fucose; Galactose; Genetic Therapy; Glycosylation; Humans; Mannose; Organ Transplantation | 2018 |
Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.
Topics: Congenital Disorders of Glycosylation; Galactose; Humans; Hypoglycemia; Muscular Diseases; Phenotype; Phosphoglucomutase | 2014 |
2 trial(s) available for galactose and Carbohydrate-Deficient Glycoprotein Syndrome
| Article | Year |
|---|---|
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.
Topics: Congenital Disorders of Glycosylation; Dietary Supplements; Galactose; Humans; Phosphotransferases (Phosphomutases); Prospective Studies | 2021 |
Carbohydrate-deficient transferrin in galactosaemia.
Topics: Biomarkers; Child; Child, Preschool; Congenital Disorders of Glycosylation; Diagnosis, Differential; Female; Galactose; Galactosemias; Humans; Male; Reference Values; Transferrin | 1997 |
7 other study(ies) available for galactose and Carbohydrate-Deficient Glycoprotein Syndrome
| Article | Year |
|---|---|
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Topics: Child; Congenital Disorders of Glycosylation; Dietary Supplements; Epilepsy; Galactose; Glycosylation; Humans | 2020 |
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.
Topics: Adult; Antiporters; Cation Transport Proteins; Child; Congenital Disorders of Glycosylation; Dietary Supplements; Fibroblasts; Galactose; Glycosylation; HEK293 Cells; Humans; Male; Membrane Proteins; Mutation; Treatment Outcome | 2017 |
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 |
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.
Topics: Animals; Animals, Newborn; Congenital Disorders of Glycosylation; Female; Galactose; Genes, Lethal; Glycosylation; Heterozygote; Homozygote; Hypoglycemia; Male; Mice; Mice, Knockout; Muscular Diseases; Phenotype; Phosphoglucomutase | 2019 |
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.
Topics: Animals; Child, Preschool; CHO Cells; Congenital Disorders of Glycosylation; Cricetinae; Cricetulus; DNA Mutational Analysis; Dogs; Female; Galactose; Humans; Madin Darby Canine Kidney Cells; Monosaccharide Transport Proteins; Phenotype | 2015 |
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Topics: Amino Acid Sequence; Carbohydrate Sequence; Cation Transport Proteins; Cations, Divalent; Congenital Disorders of Glycosylation; Dwarfism; Female; Galactose; Gene Expression; High-Throughput Nucleotide Sequencing; Humans; Infant; Ion Transport; Manganese; Molecular Sequence Data; Mutation; Pedigree; Sequence Alignment; Spasms, Infantile | 2015 |
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 |