transferrin has been researched along with Carbohydrate-Deficient Glycoprotein Syndrome in 132 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 35 (26.52) | 18.2507 |
| 2000's | 37 (28.03) | 29.6817 |
| 2010's | 41 (31.06) | 24.3611 |
| 2020's | 19 (14.39) | 2.80 |
| Authors | Studies |
|---|---|
| Baráth, P; Bellová, J; Brucknerová, I; Brucknerová, J; Bzdúch, V; Hlavatá, A; Hrčková, G; Lekka, DE; Mc Cullough, A; Mucha, J; Nemčovič, M; Ostrožlíková, M; Pakanová, Z; Šalingová, A; Šebová, C; Šesták, S; Siváková, B; Skokňová, M; Ziburová, J | 1 |
| Bogdańska, A; Lipiński, P; Sobczyńska-Tomaszewska, A; Tylki-Szymańska, A | 1 |
| Arai, Y; Fujimoto, A; Kanai, S; Koshimizu, E; Maegaki, Y; Maeoka, Y; Matsumoto, N; Miyatake, S; Okanishi, T; Okazaki, T | 1 |
| Alharbi, H; Aqul, A; Chang, I; Daniel, EJP; Edmondson, AC; Enns, GM; Freeze, HH; Goldner, DL; He, M; Hsu, E; Kichula, E; Lam, C; Lee, E; Lourenco, C; Ng, BG; Poskanzer, SA; Rasmussen, S; Raymond, KM; Saarela, K; Schultz, MJ; Thies, J; Velez-Bartolomei, F; Wang, YM; Witters, P | 1 |
| Degtyareva, A; Kamenec, E; Marakhonov, A; Semenova, N; Shatokhina, O; Shchagina, O; Strokova, T; Taran, N | 1 |
| Agolini, E; Barone, C; Barone, R; Bianca, S; Esposito, F; Fiumara, A; Garozzo, D; Jaeken, J; Messina, A; Novelli, A; Palmigiano, A; Sturiale, L; Terracciano, A | 1 |
| Bryant, EM; Calhoun, JD; Carvill, GL; Charrow, J; Giannelli, J; Miller, C; Millichap, JJ; Sanders, V; Spinelli, E; Wolak, J | 1 |
| Drenth, JPH; Huijben, K; Jansen, JC; Lefeber, DJ; Metselaar, HJ; van den Berg, AP; van Hoek, B; van Scherpenzeel, M; Zijlstra, F | 1 |
| Abbott, MA; Asteggiano, C; Bamshad, MJ; Barr, E; Bernstein, JA; Chelakkadan, S; Christodoulou, J; Chung, WK; Ciliberto, MA; Cousin, J; Dong, YY; Eklund, EA; Freeze, HH; Gardiner, F; Ghosh, S; Graf, WD; Grunewald, S; Hammond, K; Hauser, NS; Hoganson, GE; Houck, KM; Kohler, JN; Larson, AA; Liu, P; Madathil, S; McCormack, C; Meeks, NJL; Miller, R; Monaghan, KG; Morava, E; Ng, BG; Nickerson, DA; Palculict, TB; Papazoglu, GM; Pletcher, BA; Rhodes, L; Rosenfeld, JA; Rowe, LJ; Russo, RS; Scheffer, IE; Schenone, AB; Schnur, RE; Serrano Russi, AH; Shiryaev, SA; Si, Y; Thabet, F; Tuite, A; Villanueva, MM; Wang, RY; Webster, RI; Wilson, D; Wolfe, LA; Zalan, A | 1 |
| Barone, R; Casetta, B; Dionisi-Vici, C; Donati, MA; Fiumara, A; Funghini, S; Guerrini, R; la Marca, G; Malvagia, S; Martinelli, D | 1 |
| Biskup, S; Cummings, RD; Elias, AF; Fobker, M; Grüneberg, M; Haven, J; Hoffmann, S; Mangels, U; Marquardt, T; Mealer, RG; Park, JH; Reunert, J; Rust, S; Schoof, J; Schwanke, C; Smoller, JW | 1 |
| Bauchard, E; Borgel, D; Bruneel, A; Damaj, L; De Lonlay, P; Debray, D; Dobbelaere, D; Douillard, C; Dupré, T; Fabre, M; Girard, M; Kuster, A; Lacaille, F; McLin, V; Mention, K; Schiff, M; Seta, N; Torre, S; Vuillaumier-Barrot, S | 1 |
| Bogdańska, A; Tylki-Szymańska, A | 1 |
| Edmondson, AC; Freeze, HH; He, M; Johnsen, C; Lam, C; Morava, E; Patterson, MC; Raymond, KM; Witters, P | 1 |
| Asteggiano, CG; Cubilla, M; de Kremer, RD; Papazoglu, GM; Pereyra, M; Pérez, B; Sturiale, L | 1 |
| Bogdańska, A; Kozłowski, D; Lipiński, P; Pajdowska, M; Tylki-Szymańska, A | 1 |
| Alsharhan, H; Amor, DJ; Bakhtiari, S; Bhoj, EJ; Bilguvar, K; Chen, J; Christodoulou, J; Cogné, B; Daniel, EJP; Deb, W; Donald, T; Edmondson, AC; Freeze, HH; He, M; Jin, SC; Jones, EA; Kruer, MC; Li, D; Ng, BG; Raymond, KM; Sobering, AK; Vassallo, G; Vincent, M; Webster, RI; Werners, AH; Yearwood, KR | 1 |
| Bruneel, A; Plouviez, G; Raulet-Bussian, C; Raynor, A; Verel, L | 1 |
| Alaix, AS; Besmond, C; Bruneel, A; Cholet, S; Dupré, T; Fenaille, F; Raynor, A; Vincent-Delorme, C; Vuillaumier-Barrot, S | 1 |
| Athey, T; Bahl, S; Cordeiro, D; Mercimek-Andrews, S; Silver, G; Thakral, A | 1 |
| Bougas, L; Brient, N; Bruneel, A; Dupré, T; Guillemet, F; Habarou, F; Henry, D; Plouviez, G; Seta, N; Stojkovic, T; Vuillaumier-Barrot, S | 1 |
| Alfadhel, M; Bolton, M; Dvorak, C; Gadomski, TE; Morava, E; Nelson, SL; Ogunsakin, OA | 1 |
| Bastaki, F; Hamici, S; Khalifa, M | 1 |
| Antón, AI; Ballesta-Martínez, MJ; Corral, J; de la Morena-Barrio, ME; Del Campo, M; García-Algar, O; Guillén-Navarro, E; López-Gálvez, R; López-González, V; Martínez-Ribot, L; Miñano, A; Padilla, J; Vicente, V | 1 |
| Bengtson, P; D'Acunto, E; Eklund, EA; Freeze, HH; Maccarana, M; Mandato, C; Ng, BG; Poeta, M; Vajro, P; Zielinska, K | 1 |
| Burda, P; Caslavska, J; Thormann, W; Tobler, M | 1 |
| Heiner-Fokkema, MR; Kingma, HA; van der Sluijs, FH | 1 |
| Asteggiano, CG; Azar, NB; Bistué Millón, MB; Dodelson de Kremer, R; Guelbert, N; Papazoglu, M; Peralta, MF; Pereyra, M; Spécola, NS; Suldrup, NS | 1 |
| Fingerhut, R; Fobker, M; Grüneberg, M; Marquardt, T; Park, JH; Reunert, J; Wolking, AB | 1 |
| Bouchet-Séraphin, C; Bruneel, A; Dupré, T; Laforêt, P; Menassa, R; Michel-Calemard, L; Romero, N; Seta, N; Stojkovic, T; Streichenberger, N; Svahn, J; Vial, C | 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 |
| Carreno, G; Clayton, PT; Grunewald, S; Heywood, WE; Jaeken, J; Lemonde, H; Mills, K; Mills, P; Worthington, V | 1 |
| Freeze, HH; Gilmore, R; Losfeld, ME; Ng, BG; Shrimal, S | 1 |
| Eggertsen, G; Eriksson, M; Helander, A; Jaeken, J; Matthijs, G; Stödberg, T | 1 |
| Eggertsen, G; Helander, A; Jaeken, J; Matthijs, G | 1 |
| Ando, N; Kodera, H; Matsumoto, N; Miyake, N; Nakashima, M; Saitoh, S; Saitsu, H; Tsurusaki, Y; Wada, Y; Yuasa, I | 1 |
| Du Chesne, I; Grüneberg, M; Marquardt, T; Park, JH; Reunert, J; Roll, C; Rust, S; Wada, Y; Zühlsdorf, A | 1 |
| DuChesne, I; Grüneberg, M; Marquardt, T; Park, JH; Reunert, J; Rust, S; Wada, Y; Zühlsdorf, A | 1 |
| Barone, R; Battini, R; Burlina, A; Carrozzi, M; Ciana, G; Di Rocco, M; Elia, M; Fiumara, A; Garozzo, D; Jaeken, J; Leoni, M; Leuzzi, V; Lilliu, F; Martinelli, D; Matthijs, G; Parini, R; Spada, M; Sturiale, L | 1 |
| Abel, C; Cheillan, D; Edery, P; Frachon, SC; Hays, S; Lepais, L; Matthijs, G; Panagiotakaki, E; Rossi, M | 1 |
| He, M; Li, X; Raihan, MA; Reynoso, FJ | 1 |
| Lefeber, DJ; Morava, E; Steenbergen, G; van Scherpenzeel, M; Wevers, RA | 1 |
| Bengtson, P; Eklund, EA; Freeze, HH; Jaeken, J; Matthijs, G; Ng, BG | 1 |
| Lingappa, L; Panigrahy, N; Ramadevi, AR; Venkatlakshmi, A | 1 |
| Choy, KW; Doery, JC; Fietz, M; Tudball, R; Wijeratne, N | 1 |
| Wada, Y | 2 |
| Barbosa, J; Barroso, A; Benavente, F; Giménez, E; Sanz-Nebot, V | 1 |
| Al Teneiji, A; Bruun, TU; Cohn, RD; Cordeiro, D; Kyriakopoulou, L; Mendoza-Londono, R; Mercimek-Mahmutoglu, S; Moharir, M; Raiman, J; Sidky, S; Siriwardena, K | 1 |
| Ashavaid, TF; Dave, MB; Desai, NA; Dherai, AJ; Hegde, AU; Udani, VP | 1 |
| Barone, R; Fiumara, A; Garozzo, D; Ignoto, A; Sofia, V; Sorge, G; Sturiale, L; Zappia, M | 1 |
| Ballhausen, D; Bonafé, L; Hanquinet, S; Henry, H; Kern, I; Newman, CJ; Rimella-Le-Huu, A; Roulet-Perez, E; Superti-Furga, A | 1 |
| Artuch, R; Briones, P; Campistol, J; Cusí, V; García-Cazorla, A; Grunewald, S; Matthijs, G; Pérez-Cerdá, C; Pérez-Dueñas, B; Pineda, M; Poo, P; Schollen, E; Vilaseca, MA | 1 |
| Dimopoulou, A; Fischer, B; Guillard, M; Kornak, U; Lefeber, DJ; Morava, E; Wevers, RA | 1 |
| Aldamiz-Echevarria, L; Andrade, F; Artuch, R; Barone, R; Briones, P; Couce, ML; Fernandez, C; Montero, R; Quintana, E; Ribes, A; Sturiale, L | 1 |
| Harrington, JW; Lockemer, HE | 1 |
| Albahri, Z; Marklová, E | 2 |
| Jaeken, J | 1 |
| Adamowicz, M; Cirak, S; Gardeitchik, T; Guillard, M; Koletzko, B; Korsch, E; Kouwenberg, D; Lefeber, DJ; Lim, BC; Marklova, E; Matthijs, G; Michelakakis, H; Mohamed, M; Morava, E; Niezen-Koning, KE; van Spronsen, FJ; Wevers, RA; Wortmann, SB; Zeevaert, R | 1 |
| Guillard, M; Hansikova, H; Janssen, A; Kadoya, M; Lefeber, DJ; Morava, E; Ondruskova, N; Van den Heuvel, LP; Vesela, K; Wada, Y; Wevers, RA; Yuasa, I; Zeman, J | 1 |
| Aracil, A; Artuch, R; Briones, P; Casado, M; Montero, R; Muchart, J; O'Callaghan, MM; Pérez, B; Pérez-Cerda, C; Pineda, M; Quintana, E | 1 |
| Berry, G; Bhide, S; Chin, E; Freeze, HH; He, M; He, P; Hegde, MR; Jones, MA; Losfeld, ME; Ng, BG; Raymond, K; Rhodenizer, D | 1 |
| Hoffmann, GF; Körner, C; Meßner-Schmitt, D; Thiel, C | 1 |
| Ichikawa, K; Kadoya, M; Okamoto, N; Wada, Y | 1 |
| de Brouwer, AP; Gilissen, C; Iqbal, Z; Khan, SN; Kleefstra, T; Lefeber, DJ; Razzaq, A; Riazuddin, S; Shahzad, M; van Bokhoven, H; van Scherpenzeel, M; Veltman, JA; Vissers, LE; Zahoor, MY | 1 |
| Bubel, S; Hackler, R; Hagenah, J; Hoffmann, GF; Klein, C; Peters, V; Schaefer, JR; Vieregge, P | 1 |
| Behera, S; Buist, N; Cowan, C; Enns, GM; Freeze, HH; Hudgins, L; Jaeken, J; Leppig, KA; Matthijs, G; McCracken, MF; O'brien, JF; Steiner, RD; Westphal, V | 1 |
| Denecke, J; Marquardt, T | 1 |
| Artuch, R; Briones, P; Busquets, C; Ferrer, I; Moreno, J; Pineda, J; Vilaseca, MA | 1 |
| Bergström, J; Freeze, HH; Helander, A | 1 |
| Bakker, JA; Jaeken, J; Sijstermans, HJ; Spaapen, LJ; Steet, RA; van der Meer, SB; Wevers, RA | 1 |
| Aw, MM; Eklund, EA; Freeze, HH; Miura, Y; Tay, SK | 1 |
| McGill, J; O'Sullivan, JD; Schoffer, KL | 1 |
| Althaus, H; Born, C; Delanghe, JR; Gentzer, W; Helander, A; Pekelharing, JM; Roth, HJ; Schellenberg, F; Wielders, JP; Yagmur, E | 1 |
| Knoers, NA; Kremer, HP; Lefeber, DJ; Leijten, QH; Matthijs, G; Morava, E; Scheffer, H; Vermeer, S; Wevers, RA | 1 |
| Agarwal, B; Ahmed, A; Bloom, M; Kadom, N; Krasnewich, D; Rushing, EJ; Santi, M; Vezina, G | 1 |
| Babovic-Vuksanovic, D; O'Brien, JF | 1 |
| De Jong, G; Feelders, R; Van Eijk, HG; Van Noort, WL | 1 |
| Bakker, JA; Spaapen, LJ; van Pelt, J; Velmans, MH | 1 |
| Chasco Yrigoyen, A; de Castro, J; Ferrer, I; García Silva, MT; Guttierrez-Larraya, F; Madero, S; Mateos, F; Simón, R; Stibler, H; Velasco, JM | 1 |
| Adamowicz, M; Pronicka, E | 1 |
| Barnier, A; Besnard, MA; Durand, G; Hochedez, F; Seta, N | 1 |
| Dwek, RA; Iourin, O; Keir, G; Mattu, TS; Mian, N; Rudd, PM; Winchester, B | 1 |
| Davidson, DC; Isherwood, DM; Subhedar, NV | 1 |
| Bieger, WP; Kohlmüller, D; Mayatepek, E; Nützenadel, W; Schröder, M | 1 |
| Coffin, D; Kraft, DL; Landers, JP; O'Brien, JF; Oda, RP; Patton, WP; Prasad, R; Stout, RL | 1 |
| Charlwood, J; Clayton, P; Johnson, A; Keir, G; Mian, N; Winchester, B | 1 |
| Guthenberg, C; Kristiansson, B; Stibler, H; von Döbeln, U | 1 |
| Arbuckle, S; Carey, W; Fagan, E; Lipson, A; Nelson, P; Worthington, S | 1 |
| Holzbach, U; Kristiansson, B; Stibler, H | 1 |
| Berger, R; Boonman, AM; de Jong, GJ; de Koning, TJ; De Schryver, J; Dorland, L; Duran, M; Gerwig, GJ; Poll-The, BT; van den Berg, IE; van Diggelen, OP; van Noort, WL | 1 |
| Briand, G; Carchon, H; Coddeville, B; Jaeken, J; Spik, G | 1 |
| Arbtan, KD; Carmichael, KP; Orlando, R; Yang, Y | 1 |
| Ohno, K | 1 |
| Bembi, B; Carozzi, M; Ciana, G; Mangiarotti, M; Martini, C; Simeone, R; Tamaro, G | 1 |
| Huijben, K; Rusch, H; Vreken, P; Wevers, RA | 1 |
| Aebi, M; Berger, EG; Borsig, L; Burda, P; Carchon, H; de Rijk-van Andel, J; Jaeken, J; Wevers, R | 1 |
| Freeze, HH | 1 |
| Clayton, P; Keir, G; Winchester, BG | 1 |
| Kondo, I; Kuwajima, K; Mizugishi, K; Shigemoto, K; Yamanaka, K; Yuasa, I | 1 |
| Ackermann, K; Günthner, A; Mann, K; Mundle, G; Munkes, J | 1 |
| Gylje, H; Stibler, H; Uller, A | 1 |
| Bachmann, C; Dionisi-Vici, C; Eilers-Messerli, B; Froehlich, F; Gonvers, JJ; Henry, H; Lavanchy, D; Perret, R; Tissot, JD | 1 |
| Maruyama, K; Ohkura, T; Shinzawa, H; Suzuki, T; Umetsu, K; Yamashita, K; Yoshikawa, K; Yuasa, I | 1 |
| Beaune, G; Castelnau, P; Cuer, M; de Lonlay, P; Durand, G; Kretz, M; Saudubray, JM; Seta, N; Vuillaumier-Barrot, S | 1 |
| Carchon, H; Jaeken, J; Matthijs, G; Van Schaftingen, E | 1 |
| Aebi, M; Freeze, HH | 1 |
| Jaeken, J; Schachter, H | 1 |
| Knauer, R; Körner, C; Lehle, L; Marquardt, T; Stephani, U; von Figura, K | 1 |
| Patterson, MC | 1 |
| Jakobs, C; Kneepkens, CM; Neele, DM; Verhoeven, NM | 1 |
| Filiano, J; Freeze, HH; Karnes, PS; Kim, S; Mehta, DP; Patterson, MC; Peterson, S; Srikrishna, G; Westphal, V | 1 |
| Aebi, M; Bailie, NM; Berger, EG; Burda, P; Grunewald, S; Hennet, T; Imbach, T; Jaeken, J; King, MD; Matthijs, G; Schenk, B; Schollen, E; Stutz, A | 1 |
| Kościelak, J | 1 |
| Cormier-Daire, V; Cuer, M; de Lonlay, P; Durand, G; Munnich, A; Saudubray, JM; Seta, N; Vuillaumier-Barrot, S | 1 |
| Beesley, C; Champion, M; Charlwood, J; Clayton, P; Imtiaz, F; Keir, G; Mian, N; Winchester, B; Worthington, V | 1 |
| Holzbach, U; Huber, WD; Huemer, M; Moeslinger, D; Schima, W; Stoeckler-Ipsiroglu, S; Wank, H; Wevers, R | 1 |
| Adami, A; Barone, R; Burlina, A; Carrozzi, M; Di Rocco, M; Dionisi-Vici, C; Fiumara, A; Gatti, R; Iannetti, P; Parini, R; Raucci, U; Roccella, M; Spada, M | 1 |
| Fletcher, JM; Jaeken, J; Matthijs, G; Nelson, PV; Van Schaftingen, E | 1 |
| Berant, M; Brill-Zamir, R; Fryns, JP; Gershoni-Baruch, R; Jaeken, J; Knopf, C; Lischinsky, S; Mandel, H; Rod, R; Van Schaftingen, E | 1 |
| Ohno, K; Yuasa, I | 1 |
| Barrot, S; Chabrol, B; Cormier-Daire, V; de Lonlay, P; Drouin, V; Gabriel, BM; Jaeken, J; Journel, H; Korner, C; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Matthijs, G; Munnich, A; Pedespan, D; Sarda, P; Saudubray, JM; Schmitz, J; Seta, N; van Schaftingen, E; Villeneuve, N | 1 |
| Amiel, J; Cormier-Daire, V; Durand, G; Le Merrer, M; Munnich, A; Seta, N; Tan, J; Vuillaumier-Barrot, S | 1 |
| Freeze, H; Marquardt, T | 1 |
| Davis, JA; Freeze, HH; Kjaergaard, S; Peterson, SM; Skovby, F; Westphal, V | 1 |
| du Plessis, JA; Erasmus, E; Knoll, DP; Lippert, MM; Mienie, LJ; Pretorius, PJ; van der Westhuizen, FH | 1 |
| Henderson, MJ; Hendriksz, CJ; Imtiaz, F; Keir, DG; Matthijs, G; McClean, P; Schollen, E; Winchester, BG; Worthington, VC | 1 |
| Arndt, T; Assmann, B; Hackler, R; Hoffmann, GF; Jaeken, J; Mayatepek, E; Peters, V; Schaefer, JR | 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 |
| Ferens-Sieczkowska, M; Katnik-Prastowska, I; Midro, A; Zwierz, K | 1 |
| Pascual-Castroviejo, I | 1 |
21 review(s) available for transferrin and Carbohydrate-Deficient Glycoprotein Syndrome
| Article | Year |
|---|---|
Congenital disorders of glycosylation - constantly growing group of metabolic diseases.
Topics: Congenital Disorders of Glycosylation; Glycosylation; High-Throughput Nucleotide Sequencing; Humans; Pathology, Molecular; Protein Isoforms; Transferrin | 2020 |
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
Topics: Child, Preschool; Congenital Disorders of Glycosylation; Exome; Female; Glycosylation; Heterozygote; Humans; Infant; Mental Retardation, X-Linked; Mutation, Missense; N-Acetylglucosaminyltransferases; Protein Processing, Post-Translational; Spasms, Infantile; Syndrome; Transferrin; X Chromosome Inactivation | 2017 |
Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.
Topics: Apolipoprotein C-III; Congenital Disorders of Glycosylation; Humans; Mass Spectrometry; Molecular Diagnostic Techniques; Transferrin | 2016 |
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
Topics: Animals; Apolipoprotein C-III; Cell Membrane; Congenital Disorders of Glycosylation; Cutis Laxa; Genes, Recessive; Glycosylation; Humans; Mice; Models, Molecular; Phenotype; Protein Subunits; Proton-Translocating ATPases; Subcellular Fractions; Transferrin; Vacuolar Proton-Translocating ATPases | 2009 |
Congenital disorders of glycosylation.
Topics: Apolipoprotein C-III; Congenital Disorders of Glycosylation; Glycosylation; Humans; Isoelectric Focusing; Transferrin | 2010 |
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
Topics: Anemia, Dyserythropoietic, Congenital; Animals; Congenital Disorders of Glycosylation; Dolichols; Exostoses, Multiple Hereditary; Glycosylation; Humans; Isoelectric Focusing; Progeria; Protein Processing, Post-Translational; Transferrin | 2003 |
Pitfalls and drawbacks in screening of congenital disorders of glycosylation.
Topics: Biomarkers; Congenital Disorders of Glycosylation; Genetic Variation; Glycoproteins; Glycosylation; Humans; Leukocytes; Mass Screening; Transferrin | 2004 |
Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.
Topics: Carbohydrate Metabolism, Inborn Errors; Congenital Disorders of Glycosylation; Glycosylation; Humans; Models, Biological; Transferrin | 2007 |
Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia.
Topics: Cerebellum; Congenital Disorders of Glycosylation; Fatal Outcome; Humans; Infant; Male; Transferrin | 1997 |
[Carbohydrate-deficient glycoprotein (CDG) syndrome (Jaeken syndrome)].
Topics: Asialoglycoproteins; Congenital Disorders of Glycosylation; Diagnosis, Differential; Humans; Mannose; Mutation; N-Acetylglucosaminyltransferases; Phosphotransferases (Phosphomutases); Transferrin | 1998 |
Disorders in protein glycosylation and potential therapy: tip of an iceberg?
Topics: Child; Congenital Disorders of Glycosylation; Glycoproteins; Glycosylation; Humans; Mannose; Transferrin | 1998 |
Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation.
Topics: Carbohydrate Conformation; Carbohydrate Sequence; Congenital Disorders of Glycosylation; Glycosylation; Humans; Molecular Sequence Data; Polysaccharides; Transferrin | 1999 |
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
Topics: Animals; Biomarkers; Congenital Disorders of Glycosylation; Glycoproteins; Humans; Isoelectric Focusing; Mannose-6-Phosphate Isomerase; Mutation; N-Acetylneuraminic Acid; Phosphotransferases (Phosphomutases); Transferrin | 1999 |
Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity.
Topics: Carbohydrate Sequence; Congenital Disorders of Glycosylation; Glucosyltransferases; Glycosylation; Humans; Isoelectric Focusing; Lipopolysaccharides; Mannose; Mannose-6-Phosphate Isomerase; Molecular Sequence Data; Phosphotransferases (Phosphomutases); Transferrin | 1999 |
Carbohydrate-deficient glycoprotein syndrome type II.
Topics: Animals; Carbohydrate Sequence; Congenital Disorders of Glycosylation; Disease Models, Animal; Evolution, Molecular; Glycoproteins; Glycosylation; Hexosyltransferases; Humans; Isoelectric Focusing; Mass Spectrometry; Membrane Proteins; Molecular Sequence Data; Monocytes; N-Acetylglucosaminyltransferases; Point Mutation; Polysaccharides; Psychomotor Disorders; Transferases; Transferrin | 1999 |
Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes.
Topics: Congenital Disorders of Glycosylation; Electrophoresis; Endoplasmic Reticulum; Glycoproteins; Glycosylation; Golgi Apparatus; Humans; Mass Screening; Phenotype; Protein Isoforms; Transferrin | 1999 |
Carbohydrate-deficient glycoprotein syndromes.
Topics: Carbohydrate Sequence; Congenital Disorders of Glycosylation; Dolichols; Glycoproteins; Glycosylation; Humans; Mannose; Molecular Sequence Data; Oligosaccharides; Transferrin | 1999 |
[Carbohydrate-deficient blood glycoprotein syndrome].
Topics: Blood Proteins; Congenital Disorders of Glycosylation; Diagnosis, Differential; Glycoproteins; Glycosylation; Humans; Transferrin | 2000 |
[CDG syndrome(congenital disorders of glycosylation)].
Topics: Biomarkers; Congenital Disorders of Glycosylation; Diagnosis, Differential; Humans; Nervous System Diseases; Transferrin | 2000 |
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.
Topics: Child; Child, Preschool; Congenital Disorders of Glycosylation; Diarrhea; Face; Glycoproteins; Growth Disorders; Humans; Intellectual Disability; Male; N-Acetylglucosaminyltransferases; Point Mutation; Transferrin | 2000 |
Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.
Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Congenital Disorders of Glycosylation; Glycosylation; Humans; Mammals; Molecular Biology; Proteins; Saccharomyces cerevisiae; Transferrin | 2001 |
3 trial(s) available for transferrin and Carbohydrate-Deficient Glycoprotein Syndrome
| Article | Year |
|---|---|
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
Topics: Congenital Disorders of Glycosylation; Humans; Mannose; Phosphotransferases (Phosphomutases); Prospective Studies; Reproducibility of Results; Transferrin | 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 |
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.
Topics: Cells, Cultured; Congenital Disorders of Glycosylation; DNA Mutational Analysis; Female; Fibroblasts; Genotype; Humans; Infant; Infant, Newborn; Lymphocytes; Male; Phenotype; Reverse Transcriptase Polymerase Chain Reaction; Transferrin | 2000 |
108 other study(ies) available for transferrin and Carbohydrate-Deficient Glycoprotein Syndrome
| Article | Year |
|---|---|
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Topics: Congenital Disorders of Glycosylation; Female; Genetic Predisposition to Disease; Genetic Testing; Glycosylation; Homozygote; Humans; Infant; Infant, Newborn; Male; Mannosyltransferases; Mutation, Missense; Phenotype; Polysaccharides; Slovakia; Transferrin | 2021 |
Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult.
Topics: Congenital Disorders of Glycosylation; Exome Sequencing; Humans; Isoelectric Focusing; Mass Screening; Polymorphism, Genetic; Transferrin | 2021 |
A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.
Topics: Congenital Disorders of Glycosylation; Exome Sequencing; Glycosylation; Homozygote; Humans; Infant; Male; Mannosyltransferases; Microcephaly; Transferrin | 2022 |
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Topics: Congenital Disorders of Glycosylation; Glycoproteins; Humans; Hydrolases; Immunoglobulins; Phenotype; Polysaccharides; Transferrin; Vacuolar Proton-Translocating ATPases | 2023 |
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (
Topics: Congenital Disorders of Glycosylation; Glycosylation; Humans; Infant; Liver Transplantation; Male; Tacrolimus; Transferrin; Vacuolar Proton-Translocating ATPases | 2023 |
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Topics: Child; Child, Preschool; Congenital Disorders of Glycosylation; Endoplasmic Reticulum; Exome Sequencing; Female; Glycoproteins; Glycosylation; Humans; IgG Deficiency; Immunoglobulins; Infant; Male; Mannosyltransferases; Oligosaccharides; Polysaccharides; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin | 2019 |
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
Topics: Congenital Disorders of Glycosylation; Epilepsy; Exome Sequencing; Female; Hexosyltransferases; Humans; Infant; Male; Membrane Proteins; Mutation; Phenotype; Transferrin | 2020 |
Screening for abnormal glycosylation in a cohort of adult liver disease patients.
Topics: Adult; Aged; Case-Control Studies; Cohort Studies; Congenital Disorders of Glycosylation; End Stage Liver Disease; Female; Glycosylation; Humans; Liver; Male; Mass Spectrometry; Middle Aged; Transferrin | 2020 |
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Topics: Biomarkers; Child, Preschool; Congenital Disorders of Glycosylation; Diet, Ketogenic; Female; Glycosylation; Humans; Infant; Male; Mutation; N-Acetylglucosaminyltransferases; Spasms, Infantile; Transferrin | 2020 |
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).
Topics: Chromatography, Liquid; Congenital Disorders of Glycosylation; Glycoproteins; Glycosylation; Humans; Mass Spectrometry; Protein Isoforms; Transferrin | 2020 |
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Topics: Adolescent; Basal Ganglia; Cation Transport Proteins; Child; Child, Preschool; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Exome Sequencing; Female; Glycosylation; Humans; Infant; Magnetic Resonance Imaging; Male; Manganese; Mass Spectrometry; Phenotype; Transferrin; Young Adult | 2020 |
Long term outcome of MPI-CDG patients on D-mannose therapy.
Topics: Administration, Oral; Child; Child, Preschool; Congenital Disorders of Glycosylation; Female; Humans; Hypertension; Infant; Liver Cirrhosis; Male; Mannose; Mannose-6-Phosphate Isomerase; Medication Adherence; Retrospective Studies; Transferrin; Treatment Outcome; Venous Thrombosis | 2020 |
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Topics: Argentina; Child; Child, Preschool; Congenital Disorders of Glycosylation; Exome Sequencing; Female; Glycosylation; Homozygote; Humans; Isoelectric Focusing; Male; Mannosyltransferases; Phenotype; Polysaccharides; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin | 2021 |
Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation.
Topics: Case-Control Studies; Congenital Disorders of Glycosylation; Dried Blood Spot Testing; Humans; Isoelectric Focusing; Mass Screening; Protein Isoforms; Reproducibility of Results; Transferrin | 2021 |
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Topics: Congenital Disorders of Glycosylation; Female; Genetic Variation; Glycosylation; Humans; Intellectual Disability; Male; N-Acetylglucosaminyltransferases; Phenotype; Transferrin | 2021 |
Capillary zone electrophoresis of transferrin and EDTA samples in congenital disorders of glycosylation screening: CaNOt do, really?
Topics: Congenital Disorders of Glycosylation; Edetic Acid; Electrophoresis, Capillary; Humans; Isoelectric Focusing; Transferrin | 2021 |
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
Topics: Apolipoprotein C-III; Congenital Disorders of Glycosylation; Female; Glycosylation; Homeostasis; Humans; Infant, Newborn; Male; Transferrin | 2021 |
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
Topics: Adolescent; Anticonvulsants; Child; Child, Preschool; Congenital Disorders of Glycosylation; Epilepsy; Female; Humans; Isoelectric Focusing; Liver Function Tests; Male; Prevalence; Retrospective Studies; Transferrin | 2021 |
Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation.
Topics: Biomarkers; Congenital Disorders of Glycosylation; Electrophoresis, Gel, Two-Dimensional; Glycosylation; Haptoglobins; Humans; Transferrin | 2017 |
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
Topics: Child, Preschool; Cognition; Congenital Disorders of Glycosylation; Glycosylation; Humans; Isoelectric Focusing; Male; Mutation; N-Acetylglucosaminyltransferases; Seizures; Transferrin | 2017 |
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.
Topics: Adolescent; Adult; Alleles; Case-Control Studies; Child; Child, Preschool; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Female; Fetal Alcohol Spectrum Disorders; Genetic Predisposition to Disease; Genetic Variation; Glycosylation; Humans; Infant; Male; Maternal Exposure; Middle Aged; Mothers; Mutation; Odds Ratio; Pregnancy; Retrospective Studies; Sequence Analysis, DNA; Transferrin | 2018 |
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.
Topics: Alkaline Phosphatase; Ceruloplasmin; Child, Preschool; Congenital Disorders of Glycosylation; Female; Glycosylation; Golgi Apparatus; Humans; Liver; Liver Diseases; Male; Membrane Proteins; Mutation; Transferrin; Young Adult | 2018 |
High-resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation.
Topics: Congenital Disorders of Glycosylation; Electrophoresis, Capillary; Glycosylation; Humans; Isoelectric Focusing; Transferrin | 2018 |
Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis.
Topics: Congenital Disorders of Glycosylation; Electrophoresis, Capillary; Glycosylation; Humans; Mass Screening; Polymorphism, Genetic; Reference Standards; Sialoglycoproteins; Time Factors; Transferrin | 2018 |
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
Topics: Adult; Argentina; Child; Child, Preschool; Collagen Type VI; Congenital Disorders of Glycosylation; Exome; Female; Galactosemias; Genetic Predisposition to Disease; Genetic Testing; Genetic Variation; Glycolipids; Glycoproteins; Glycosylation; Homozygote; Humans; Infant; Infant, Newborn; Isoelectric Focusing; Male; Mass Screening; Neonatal Screening; Phenotype; Sequence Analysis, DNA; Transferrin | 2018 |
Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.
Topics: Blood Specimen Collection; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Glycosylation; Humans; Isoelectric Focusing; Transferrin | 2019 |
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
Topics: Adult; Age of Onset; Cardiomyopathy, Dilated; Congenital Disorders of Glycosylation; Exons; Genetic Variation; Humans; Magnetic Resonance Imaging; Male; Mannosyltransferases; Membrane Proteins; Muscle, Skeletal; Muscular Dystrophies, Limb-Girdle; Mutation, Missense; Transferrin; Young Adult | 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 |
A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.
Topics: Chromatography, Affinity; Congenital Disorders of Glycosylation; Glycoproteins; Glycosylation; Humans; Mass Spectrometry; Peptides; Polysaccharides; Transferrin | 2013 |
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
Topics: Adolescent; Cells, Cultured; Child, Preschool; Congenital Disorders of Glycosylation; Consanguinity; Female; Glycosylation; HeLa Cells; Hexosyltransferases; Homozygote; Humans; Male; Membrane Proteins; Point Mutation; Substrate Specificity; Transferrin | 2013 |
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
Topics: Adolescent; Child; Congenital Disorders of Glycosylation; Female; Genotype; Glycosylation; Humans; Infant; Male; Mutation; Phosphotransferases (Alcohol Group Acceptor); Siblings; Transferrin | 2013 |
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.
Topics: Adult; Alcoholism; Biomarkers; Congenital Disorders of Glycosylation; DNA; False Positive Reactions; Female; Follow-Up Studies; Humans; Mannose-6-Phosphate Isomerase; Mutation; Transferrin | 2014 |
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
Topics: Adaptor Proteins, Vesicular Transport; Amino Acid Sequence; Amino Acid Substitution; Cell Line; Child; Congenital Disorders of Glycosylation; Exome; Gene Expression; Glycosylation; Golgi Apparatus; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Male; Mutation; Pedigree; Phenotype; Transferrin | 2015 |
The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.
Topics: Artifacts; Blood Chemical Analysis; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; DNA Mutational Analysis; Female; Humans; Immunoprecipitation; Isoelectric Focusing; Male; Mutation; Reproducibility of Results; Transferrin | 2014 |
Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.
Topics: Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Humans; Isoelectric Focusing; Mutation; Spectrometry, Mass, Electrospray Ionization; Transferrin | 2015 |
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Topics: Adolescent; Adult; Child; Child, Preschool; Congenital Disorders of Glycosylation; Disease Progression; Female; Humans; Italy; Male; Olivopontocerebellar Atrophies; Phenotype; Phosphotransferases (Phosphomutases); Severity of Illness Index; Transferrin; Young Adult | 2015 |
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.
Topics: Amino Acid Substitution; Blotting, Western; Brain; Congenital Disorders of Glycosylation; Fatal Outcome; Female; Homozygote; Humans; Infant, Newborn; Male; Mutation; Pregnancy; Radiography; Siblings; Transferrin | 2015 |
Glycosylation Analysis for Congenital Disorders of Glycosylation.
Topics: Biomarkers; Chromatography, Liquid; Congenital Disorders of Glycosylation; Glycoproteins; Glycosylation; Humans; Polysaccharides; Proteins; Proteomics; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Tandem Mass Spectrometry; Transferrin | 2015 |
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.
Topics: Congenital Disorders of Glycosylation; Humans; Mass Spectrometry; Transferrin | 2015 |
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
Topics: Acetylglucosamine; Biomarkers; Chromatography, Liquid; Congenital Disorders of Glycosylation; Glycosylation; Humans; Mannosyltransferases; Mass Spectrometry; Oligosaccharides; Serum; Transferrin | 2016 |
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis.
Topics: Congenital Disorders of Glycosylation; Fatal Outcome; Female; Glycosylation; Humans; Hydrops Fetalis; Infant, Newborn; Isoelectric Focusing; Phosphotransferases (Phosphomutases); Transferrin | 2016 |
What's Wrong with the Transferrin?
Topics: Child, Preschool; Congenital Disorders of Glycosylation; Humans; Isoelectric Focusing; Isoelectric Point; Male; Neuraminidase; Protein Isoforms; Transferrin | 2016 |
Mass spectrometry of transferrin glycoforms to detect congenital disorders of glycosylation: Site-specific profiles and pitfalls.
Topics: Congenital Disorders of Glycosylation; Glycopeptides; Glycosylation; Humans; Proteomics; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin | 2016 |
Classification of congenital disorders of glycosylation based on analysis of transferrin glycopeptides by capillary liquid chromatography-mass spectrometry.
Topics: Chromatography, Liquid; Congenital Disorders of Glycosylation; Glycopeptides; Glycosylation; Humans; Least-Squares Analysis; Mass Spectrometry; Transferrin; Trypsin; Young Adult | 2016 |
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Topics: Adolescent; Child; Child, Preschool; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Exome; Female; Gene Regulatory Networks; Genetic Predisposition to Disease; Genotype; High-Throughput Nucleotide Sequencing; Humans; Infant; Male; Phenotype; Protein Isoforms; Retrospective Studies; Sequence Analysis, DNA; Transferrin | 2017 |
Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation.
Topics: Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Electrophoresis, Capillary; Female; Humans; Male; Protein Isoforms; Transferrin | 2018 |
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.
Topics: Adult; alpha 1-Antitrypsin; Congenital Disorders of Glycosylation; Glycoproteins; Glycosylation; Humans; Male; Mutation; Phenotype; Phosphotransferases (Phosphomutases); Polysaccharides; Siblings; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin | 2008 |
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Topics: Biomarkers; Brain; Child Development; Child, Preschool; Congenital Disorders of Glycosylation; Genotype; Humans; Infant; Magnetic Resonance Imaging; Male; Mannosyltransferases; Mutation, Missense; Neurologic Examination; Phenotype; Transferrin | 2008 |
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
Topics: Adolescent; Adult; Aging; Brain; Child; Child, Preschool; Congenital Disorders of Glycosylation; Disease Progression; DNA Mutational Analysis; Female; Follow-Up Studies; Genotype; Humans; Infant; Infant, Newborn; Kidney; Magnetic Resonance Imaging; Male; Nervous System Diseases; Seizures; Spain; Tomography, X-Ray Computed; Transferrin; Young Adult | 2009 |
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
Topics: Child; Child, Preschool; Congenital Disorders of Glycosylation; Diagnostic Errors; Female; Fructose Intolerance; Fructose-Bisphosphate Aldolase; Glycosylation; Humans; Infant; Infant, Newborn; Isoelectric Focusing; Mutation; Pregnancy; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Thrombocytopenia; Transferrin | 2009 |
Presentation of congenital disorders of glycosylation type 1a.
Topics: Congenital Disorders of Glycosylation; Female; Glycosylation; Humans; Infant; Oligosaccharides; Phosphotransferases (Phosphomutases); Transferrin | 2010 |
Amniotic fluid α-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia.
Topics: alpha-Fetoproteins; Amniotic Fluid; Congenital Disorders of Glycosylation; Female; Fetus; Glycosylation; Humans; Pregnancy; Prenatal Diagnosis; Protein Isoforms; Transferrin | 2010 |
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.
Topics: Adolescent; Congenital Disorders of Glycosylation; Female; Glycosylation; Humans; Infant; Infant, Newborn; Isoelectric Focusing; Male; Transferrin | 2011 |
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
Topics: Catalytic Domain; Child; Congenital Disorders of Glycosylation; Glycosylation; Humans; Isoelectric Focusing; Male; Models, Biological; Mutation; Protein Processing, Post-Translational; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin | 2011 |
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).
Topics: Brain; Cerebellum; Congenital Disorders of Glycosylation; Developmental Disabilities; DNA; DNA Mutational Analysis; Female; Fibroblasts; Gait Disorders, Neurologic; Humans; Image Processing, Computer-Assisted; Infant; Isoelectric Focusing; Lipodystrophy; Magnetic Resonance Imaging; Neurologic Examination; Phenotype; Phosphotransferases (Phosphomutases); Transferrin | 2012 |
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
Topics: Abnormalities, Multiple; Base Sequence; Biomarkers; Child; Congenital Disorders of Glycosylation; Exome; Fibroblasts; Glycosylation; Hexosyltransferases; Humans; Male; Membrane Proteins; Molecular Sequence Data; Mutation; Pedigree; Transferrin | 2012 |
Screening for congenital disorders of glycosylation in the first weeks of life.
Topics: Congenital Disorders of Glycosylation; Female; Glycosylation; Humans; Infant; Male; Oligosaccharides; Transferrin | 2013 |
Congenital disorder of glycosylation type Ic: report of a Japanese case.
Topics: Asian People; Child; Congenital Disorders of Glycosylation; DNA Mutational Analysis; Female; Glucosyltransferases; Humans; Membrane Proteins; Transferrin | 2013 |
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Topics: Adult; Congenital Disorders of Glycosylation; DNA Mutational Analysis; Exome; Female; Glycosylation; Heterozygote; Humans; Male; Mutation, Missense; N-Acetylglucosaminyltransferases; Phenotype; Transferrin | 2013 |
[CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis].
Topics: Adult; Brain; Brain Diseases, Metabolic, Inborn; Congenital Disorders of Glycosylation; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Intellectual Disability; Isoelectric Focusing; Magnetic Resonance Imaging; Neuropsychological Tests; Spinocerebellar Degenerations; Syndrome; Transferrin | 2002 |
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
Topics: Congenital Disorders of Glycosylation; DNA Mutational Analysis; Female; Glycosylation; Humans; Infant; Isoelectric Focusing; Male; Transferrin | 2002 |
Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation.
Topics: 3,3'-Diaminobenzidine; Adolescent; Blotting, Western; Child; Child, Preschool; Congenital Disorders of Glycosylation; Densitometry; Diagnosis, Differential; Female; Glycosylation; Haptoglobins; Humans; Infant; Isoelectric Focusing; Male; Reference Values; Transferrin | 2003 |
Testing for congenital disorders of glycosylation by HPLC measurement of serum transferrin glycoforms.
Topics: Adolescent; Adult; Alcohol Drinking; Child; Child, Preschool; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Female; Glycosylation; Humans; Immunoenzyme Techniques; Infant; Infant, Newborn; Male; Middle Aged; Transferrin | 2004 |
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.
Topics: Apolipoprotein C-III; Apolipoproteins C; Carbohydrate Metabolism, Inborn Errors; Congenital Disorders of Glycosylation; Family Health; Female; Fibroblasts; Glycoproteins; Glycosylation; Golgi Apparatus; Humans; Isoelectric Focusing; Leukocytes; Liver; Lysosomes; Male; N-Acetylneuraminic Acid; Protein Isoforms; Siblings; Transferrin | 2005 |
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx.
Topics: Brain; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Glycoproteins; Humans; Liver Cirrhosis; Polysaccharides; Radiography; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin | 2005 |
Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult.
Topics: Adult; Brain; Cerebellar Ataxia; Congenital Disorders of Glycosylation; Diagnosis, Differential; Glycosylation; Humans; Karyotyping; Magnetic Resonance Imaging; Male; Reference Values; Transferrin | 2006 |
Development and multicenter evaluation of the N latex CDT direct immunonephelometric assay for serum carbohydrate-deficient transferrin.
Topics: Adolescent; Alcoholism; Animals; Antibodies, Monoclonal; Autoanalysis; Biomarkers; Child; Congenital Disorders of Glycosylation; False Positive Reactions; Female; Genetic Variation; Glycosylation; Humans; Immunoassay; Male; Mice; Mice, Inbred BALB C; Nephelometry and Turbidimetry; Reference Values; Sensitivity and Specificity; Transferrin | 2007 |
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
Topics: Adolescent; Cerebellar Ataxia; Child; Congenital Disorders of Glycosylation; Female; Fibroblasts; Humans; Isoelectric Focusing; Male; Phosphotransferases (Phosphomutases); Transferrin | 2007 |
Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.
Topics: Autopsy; Brain; Child, Preschool; Congenital Disorders of Glycosylation; Fatal Outcome; Humans; Liver Cirrhosis; Male; Transferrin | 2007 |
Transferrin microheterogeneity as a probe in normal and disease states.
Topics: Alcoholism; Carbohydrate Conformation; Carbohydrate Sequence; Case-Control Studies; Cerebrospinal Fluid; Congenital Disorders of Glycosylation; Female; Glycosylation; Humans; Molecular Probes; Molecular Sequence Data; Pregnancy; Reference Values; Reproducibility of Results; Transferrin | 1995 |
Carbohydrate-deficient transferrin values in neonatal and umbilical cord blood.
Topics: Congenital Disorders of Glycosylation; Fetal Blood; Glycosylation; Humans; Infant, Newborn; Transferrin | 1996 |
Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome.
Topics: Cardiomyopathy, Hypertrophic; Chromosomes, Human, Pair 16; Congenital Disorders of Glycosylation; Fatal Outcome; Fetal Diseases; Humans; Infant, Newborn; Male; Pericardial Effusion; Transferrin | 1996 |
Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia.
Topics: Congenital Disorders of Glycosylation; Fructose; Fructose Intolerance; Humans; Infant; Isoelectric Focusing; Male; Transferrin | 1996 |
Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome.
Topics: Adult; Blotting, Western; Congenital Disorders of Glycosylation; Humans; Infant, Newborn; Transferrin | 1996 |
The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis.
Topics: beta-Galactosidase; Carbohydrates; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Electrophoresis, Capillary; Glycoside Hydrolases; Humans; N-Acetylneuraminic Acid; Neuraminidase; Polysaccharides; Sensitivity and Specificity; Transferrin | 1996 |
Hyperglycinaemia in a child with carbohydrate-deficient glycoprotein syndrome type I.
Topics: Congenital Disorders of Glycosylation; Glycine; Humans; Infant; Male; Transferrin | 1996 |
Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.
Topics: Acyl Carrier Protein; Congenital Disorders of Glycosylation; Glycoproteins; Glycosylation; Humans; Infant; Infusions, Intravenous; Isoelectric Focusing; Male; Mannose; Phosphotransferases (Phosphomutases); Transferrin | 1997 |
Capillary electrophoresis-based separation of transferrin sialoforms in patients with carbohydrate-deficient glycoprotein syndrome.
Topics: Animals; Carbohydrate Sequence; Congenital Disorders of Glycosylation; Electrophoresis, Capillary; Glycosylation; Humans; Molecular Sequence Data; Rabbits; Sialic Acids; Transferrin | 1997 |
A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity.
Topics: Ascitic Fluid; Carbohydrate Conformation; Chromatography, Ion Exchange; Congenital Disorders of Glycosylation; Electrophoresis, Polyacrylamide Gel; Fibroblasts; Glycosylation; Humans; Infant, Newborn; Isoelectric Focusing; Male; Phosphotransferases (Phosphomutases); Polysaccharides; Transferrin | 1997 |
Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.
Topics: Adolescent; Adult; alpha 1-Antitrypsin; Antithrombin III; Blotting, Western; Child; Child, Preschool; Congenital Disorders of Glycosylation; Female; Humans; Infant; Infant, Newborn; Isoelectric Focusing; Male; Middle Aged; Thyroxine-Binding Proteins; Transferrin | 1998 |
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.
Topics: Adolescent; Child; Congenital Disorders of Glycosylation; Female; Fructose; Genetic Diseases, Inborn; Glucose; Glycosylation; Humans; Male; Mannose; Mannose-6-Phosphate Isomerase; Phosphotransferases (Phosphomutases); Transferrin | 1998 |
Determination of glycan structures and molecular masses of the glycovariants of serum transferrin from a patient with carbohydrate deficient syndrome type II.
Topics: Carbohydrate Conformation; Carbohydrate Sequence; Carbohydrates; Child; Chromatography, Affinity; Congenital Disorders of Glycosylation; Glycosylation; Humans; Magnetic Resonance Spectroscopy; Male; Mass Spectrometry; Molecular Sequence Data; Molecular Structure; Molecular Weight; Oligosaccharides; Polysaccharides; Transferrin | 1998 |
Is canine hepatocerebellar degeneration syndrome an animal model for carbohydrate-deficient glycoprotein syndrome in humans? An example of sequencing glycoprotein glycans with mass spectrometry.
Topics: Alkylation; Animals; Cerebellar Diseases; Congenital Disorders of Glycosylation; Disease Models, Animal; Dog Diseases; Dogs; Glycoproteins; Humans; Hydrolysis; Liver Diseases; Mass Spectrometry; Neurodegenerative Diseases; Oxidation-Reduction; Polysaccharides; Sequence Analysis; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin | 1998 |
Carbohydrate-deficient transferrin assay in pediatrics and pregnancy: expression of results.
Topics: Child; Congenital Disorders of Glycosylation; Female; Humans; Male; Pregnancy; Radioimmunoassay; Reagent Kits, Diagnostic; Transferrin | 1998 |
Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome.
Topics: Chromatography, Ion Exchange; Congenital Disorders of Glycosylation; Humans; Isoelectric Focusing; Transferrin | 1998 |
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
Topics: Carbohydrate Sequence; Child; Child, Preschool; Congenital Disorders of Glycosylation; Consanguinity; Dolichols; Female; Fibroblasts; Glucose; Glucosyltransferases; Glycosylation; Hexosyltransferases; Humans; Male; Membrane Proteins; Molecular Sequence Data; Netherlands; Oligosaccharides; Phosphotransferases (Phosphomutases); Sialoglycoproteins; Transferases; Transferrin | 1998 |
Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.
Topics: Adolescent; Child; Congenital Disorders of Glycosylation; DNA Mutational Analysis; Female; Humans; Isoelectric Focusing; Japan; Mutation, Missense; Phosphotransferases (Phosphomutases); Polymerase Chain Reaction; Transferrin | 1999 |
Treatment outcome in alcoholism - a comparison of self-report and the biological markers carbohydrate-deficient transferrin and gamma-glutamyl transferase.
Topics: Adult; Alcoholism; Biomarkers; Congenital Disorders of Glycosylation; Cross-Sectional Studies; gamma-Glutamyltransferase; Humans; Male; Self-Assessment; Temperance; Transferrin; Treatment Outcome | 1999 |
A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.
Topics: Abnormalities, Multiple; Atrophy; Blotting, Western; Congenital Disorders of Glycosylation; Consanguinity; Developmental Disabilities; Female; Frontal Lobe; Glycoproteins; Humans; Infant; Limb Deformities, Congenital; Magnetic Resonance Imaging; Nails, Malformed; Nipples; Protein Isoforms; Spasms, Infantile; Syringomyelia; Transferrin | 1999 |
Microheterogeneity of serum glycoproteins in patients with chronic alcohol abuse compared with carbohydrate-deficient glycoprotein syndrome type I.
Topics: Alcoholism; Amidohydrolases; Antibody Specificity; Blood Proteins; Congenital Disorders of Glycosylation; Electrophoresis, Gel, Two-Dimensional; Electrophoresis, Polyacrylamide Gel; Glycoproteins; Glycosylation; Humans; Immunoblotting; Neuraminidase; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Polysaccharides; Transferrin | 1999 |
Determination of carbohydrate-deficient transferrin separated by lectin affinity chromatography for detecting chronic alcohol abuse.
Topics: Alcoholism; Biomarkers; Chromatography, Affinity; Congenital Disorders of Glycosylation; Glycosylation; Humans; Lectins; Phenotype; Protein Isoforms; Reference Values; Statistics, Nonparametric; Transferrin | 1999 |
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.
Topics: Administration, Oral; Blood Glucose; Congenital Disorders of Glycosylation; Diarrhea; Drug Monitoring; Female; Hepatomegaly; Humans; Hyperinsulinism; Hypoglycemia; Infant; Insulin; Mannose; Mannose-6-Phosphate Isomerase; Peptides; Thrombosis; Transferrin; Vomiting | 1999 |
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.
Topics: Amino Acid Sequence; Carboxypeptidases; Cathepsin A; Child, Preschool; Congenital Disorders of Glycosylation; DNA Mutational Analysis; Endoplasmic Reticulum; Genetic Complementation Test; Glycosylation; Humans; Male; Mannosyltransferases; Molecular Sequence Data; Mutation, Missense; Paresis; Sequence Homology, Amino Acid; Time Factors; Transferrin | 1999 |
Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib.
Topics: Child, Preschool; Congenital Disorders of Glycosylation; Humans; Liver; Male; Transferrin | 1999 |
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
Topics: Brain Diseases, Metabolic, Inborn; Carbohydrate Sequence; Cells, Cultured; Congenital Disorders of Glycosylation; Developmental Disabilities; DNA Mutational Analysis; Female; Fibroblasts; Glycoside Hydrolases; Glycosylation; Humans; Infant; Isoelectric Focusing; Isoenzymes; Male; Mannose; Mannosyltransferases; Microcephaly; Molecular Sequence Data; Mutation; Reverse Transcriptase Polymerase Chain Reaction; Seizures; Sequence Deletion; Transferrin | 2000 |
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
Topics: Amino Acid Sequence; Animals; Base Sequence; Carbohydrate Sequence; Carrier Proteins; CD59 Antigens; Cells, Cultured; Child, Preschool; Congenital Disorders of Glycosylation; Endoplasmic Reticulum; Female; Fibroblasts; Fungal Proteins; Glycosylation; Humans; Infant; Intramolecular Oxidoreductases; Isoenzymes; Lipocalins; Male; Mannose; Mannosyltransferases; Membrane Proteins; Mice; Molecular Sequence Data; Mutation; Oligosaccharides; Saccharomyces cerevisiae Proteins; Thy-1 Antigens; Transferrin | 2000 |
Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.
Topics: Blotting, Western; Budd-Chiari Syndrome; Child; Coagulation Protein Disorders; Congenital Disorders of Glycosylation; Consanguinity; Humans; Intellectual Disability; Male; Mannose-6-Phosphate Isomerase; Phosphoglucomutase; Phosphotransferases (Phosphomutases); Portasystemic Shunt, Transjugular Intrahepatic; Transferrin | 2000 |
Carbohydrate-deficient glycoprotein syndromes: the Italian experience.
Topics: Adolescent; Adult; Cells, Cultured; Child; Child, Preschool; Congenital Disorders of Glycosylation; Female; Fibroblasts; Humans; Italy; Leukocytes; Male; Mutagenesis; Phosphotransferases (Phosphomutases); Transferrin | 2000 |
Carbohydrate-deficient glycoprotein syndrome: beyond the screen.
Topics: beta-N-Acetylhexosaminidases; Cells, Cultured; Child; Congenital Disorders of Glycosylation; Female; Fibroblasts; Humans; Infant; Isoelectric Focusing; Phosphotransferases (Phosphomutases); Transferrin | 2000 |
Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.
Topics: alpha 1-Antitrypsin; beta-N-Acetylhexosaminidases; Child, Preschool; Chromosomes, Human, Pair 7; Congenital Disorders of Glycosylation; Diagnosis, Differential; Female; Humans; Incontinentia Pigmenti; Isoelectric Focusing; Mannose-6-Phosphate Isomerase; Mosaicism; Phosphotransferases (Phosphomutases); Protein Isoforms; Transferrin; Trisomy | 2000 |
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
Topics: Adipose Tissue; Adolescent; Adult; Child; Child, Preschool; Congenital Disorders of Glycosylation; Face; Female; Glycoproteins; Humans; Infant; Male; Mutation; Nipples; Phosphotransferases (Phosphomutases); Psychomotor Disorders; Transferrin | 2001 |
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.
Topics: Adult; Child, Preschool; Congenital Disorders of Glycosylation; DNA; DNA Mutational Analysis; DNA, Complementary; Family Health; Female; Follow-Up Studies; Humans; Male; Mannose; Mannose-6-Phosphate Isomerase; Mutation, Missense; Polymorphism, Genetic; Time Factors; Transferrin; Treatment Outcome | 2001 |
An atypical carbohydrate-deficient glycoprotein (CDG) syndrome patient in South Africa.
Topics: Blindness; Congenital Disorders of Glycosylation; Female; Humans; Infant; Intellectual Disability; Isoelectric Focusing; Seizures; South Africa; Transferrin | 2001 |
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.
Topics: Administration, Oral; Congenital Disorders of Glycosylation; Electrophoresis, Agar Gel; Female; Homozygote; Humans; Infant; Mannose; Mannose-6-Phosphate Isomerase; Mutation; Transferrin | 2001 |
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.
Topics: Asialoglycoproteins; Child, Preschool; Congenital Disorders of Glycosylation; Consanguinity; Diagnosis, Differential; Humans; Intellectual Disability; Isoelectric Focusing; Male; Psychomotor Disorders; Transferrin | 2001 |
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 |
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I.
Topics: Adolescent; alpha 1-Antitrypsin; alpha-Macroglobulins; Blood Proteins; Ceruloplasmin; Congenital Disorders of Glycosylation; Female; Glycoproteins; Haptoglobins; Humans; Orosomucoid; Protein Isoforms; Time Factors; Transferrin | 2002 |
Congenital disorders of glycosylation syndromes.
Topics: Asialoglycoproteins; Carbohydrate Metabolism, Inborn Errors; Cerebellar Ataxia; Cerebellum; Child; Child, Preschool; Congenital Disorders of Glycosylation; Female; Glycosylation; Humans; Male; Phosphotransferases (Phosphomutases); Transferrin | 2002 |