Page last updated: 2024-08-23

transferrin and Carbohydrate Metabolism, Inborn Error

transferrin has been researched along with Carbohydrate Metabolism, Inborn Error in 62 studies

Research

Studies (62)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	23 (37.10)	18.2507
2000's	39 (62.90)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Freeze, HH; Hennet, T; Jaeken, J; Matthijs, G	1
Artuch, R; Briones, P; García-Villoria, J; Hernández-Pérez, JM; Montero, R; Navarro-Sastre, A; Quintana, E; Ribes, A	1
Albahri, Z; Marklová, E	1
Artuch, R; Briones, P; Casado, M; Montero, R; Navarro-Sastre, A; Quintana, E; Vilaseca, MA	1
Callewaert, N; Contreras, R; Jaeken, J; Matthijs, G; Schollen, E; Vanhecke, A	1
Artuch, R; Briones, P; Busquets, C; Chabás, A; Ferrer, I; Gort, L; Jaeken, J; Marco, M; Maties, M; Matthijs, G; Schollen, E; van Schaftingen, E; Vilaseca, MA	1
Argibay, P; Butler, M; Carchon, H; Critchley, AJ; Dwek, RA; Harvey, DJ; Hebestreit, HF; Hibbert, RG; Jaeken, J; Matthijs, G; Quelhas, D; Rudd, PM; Schollen, E; Teles, E; Vilarinho, L	1
Carchon, HA; Chevigné, R; Falmagne, JB; Jaeken, J	1
Ballhausen, D; Bosshard, NU; Durka, S; Hänseler, E; Heizmann, CW; Jaeken, J; Kleinert, P; Kuster, T; Steinmann, B; Troxler, H	1
Coucke, P; Gillessen-Kaesbach, G; Grünewald, S; Morava, E; Smeitink, J; Voit, T; Wevers, R; Wopereis, S	1
Assmann, B; Fang, J; Hoffmann, GF; Körner, C; Peters, V	1
Eliska, M; Eva, R; Hubert, V; Jaroslava, V; Lenka, M; Marika, T; Petr, D; Sylva, S; Ziad, A	1
Clayton, P; Coucke, P; Grünewald, S; Huijben, KM; Mills, PB; Morava, E; Wevers, RA; Winchester, BG; Wopereis, S	1
Bosse, K; Debus, O; Denecke, J; Harms, E; Herkenrath, P; Kranz, C; Marquardt, T; von Kleist-Retzow, JCh	1
Adamowicz, M; Grünewald, S; Huijben, KM; Lefeber, DJ; Morava, E; Wevers, RA; Wopereis, S	1
Bakker, JA; Jaeken, J; Sijstermans, HJ; Spaapen, LJ; Steet, RA; van der Meer, SB; Wevers, RA	1
Aebi, M; Allegri, AE; Di Rocco, M; Frank, CG; Grubenmann, CE; Hennet, T; Jaeken, J; Pagliardini, S; Vignola, S	1
Coman, D; Klingberg, S; McGill, J; Mercer, H; Morris, D	1
Wada, Y	2
Beesley, C; Clayton, P; Grunewald, S; Jackson, M; Keir, G; Langridge, J; Mann, A; Mian, N; Mills, K; Mills, P; Winchester, B; Worthington, V; Young, L	1
Carchon, HA; Jaeken, J; Nsibu Ndosimao, C; Van Aerschot, S	1
Hahn, SH; Minnich, SJ; O'Brien, JF	1
Althaus, J; Bergner, AL; Blakemore, KJ; Boyadjiev, SA; Braverman, NE; Casella, JF; Cohn, RD; Eklund, E; Fox, HE; Freeze, HH; Hamosh, A; Hoover-Fong, JE; Woods, SL	1
Edwards, M; Fietz, M; Fletcher, J; McKenzie, F; O'callaghan, S; Somerset, D; Spilsbury, J; Woodford, P	1
Arnold, D; Heizmann, CW; Jaeken, J; Kleinert, P; Kuster, T; Troxler, H	1
Gornik, O; Lauc, G	1
Cipollo, JF; Costello, CE; Eklund, EA; Freeze, HH; Hong, W; Kranz, C; Loh, E; Lupashin, V; Miura, Y; Ng, BG; Sharma, V; Sun, L; Ungar, D; Winkel, RD	1
De Meirleir, L; Huijben, K; Keymolen, K; Korsch, E; Lefeber, DJ; Matthijs, G; Morava, E; Wevers, RA; Wopereis, S; Zeevaert, R	1
Artuch, R; Briones, P; Gala, S; García-Cazorla, A; Montero, R; Muñoz-Almagro, C; Quintana, E; Vilaseca, MA	1
Carchon, H; Garozzo, D; Jaeken, J; Mampunza, M; Mashako, MN; Nsibu, NC; Sturiale, L; Tshibassu, MP	1
Babovic-Vuksanovic, D; O'Brien, JF	1
Ecay, J; Pérez-Cerdá, C; Quelhas, D; Ugarte, M; Vega, AI; Vilarinho, L	1
Maegaki, Y; Miura, M; Nagata, I; Ohno, K; Okanishi, T; Saito, Y; Yuasa, I	1
Bergen, HR; Lacey, JM; O'Brien, JF	1
Gray, RG; Hutchesson, AC; Keir, G; Spencer, DA	1
Kristiansson, B; Stibler, H; Wide, L	1
Clayton, P; Dell, A; di-Tomaso, E; Keir, G; Mian, N; Reason, A; Winchester, B	1
Clayton, PT; Mian, N	1
Yamashita, K	1
Carchon, H; Coddeville, B; De Cock, P; Jaeken, J; Schachter, H; Spik, G	1
Clayton, P; Di Tomaso, E; Keir, G; Rodeck, C; Winchester, B; Young, E	1
Gu, J; Inui, K; Okamoto, N; Wada, Y	1
Ideo, H; Kanai, M; Ohkura, T; Ohno, K; Yamashita, K	1
Nakanishi, T; Okamoto, N; Shimizu, A; Tanaka, K	1
Carchon, H; Jaeken, J; Stibler, H	1
Brostrøm, K; Petersen, MB; Skovby, F; Stibler, H	1
Fukushima, K; Ideo, H; Ohkura, T; Ohno, K; Takeshita, K; Yamashita, K; Yuasa, I	1
Cederberg, B; Stibler, H	1
Pedersen, SJ; Strøm, EH; Strømme, P; Westvik, J	1
Artuch, R; Briones, P; Colomé, C; Ferrer, I; Pineda, M; Vilaseca, MA	1
Freeze, H; Marquardt, T	1
Clayton, P; Johnson, A; Mills, K; Mills, P; Whitehouse, D; Winchester, B	1
Pascual-Castroviejo, I	1
Inui, K; Nishikawa, A; Okada, S; Okamoto, N; Taniguchi, N; Tsukamoto, H; Wada, Y	1
Akaboshi, S; Ehara, H; Itoh, M; Ochiai, Y; Ohno, K; Takeshita, K; Yoshida, K; Yuasa, I	1
Harbison, MD; Harrison, HH; Miller, KL; Slonim, AE	1
Hagberg, B; Jaeken, J; Stibler, H	1
Jaeken, J; Kint, J; Ramaekers, VT; Stibler, H	1
Clayton, PT; Hall, NA; Harding, BN; Horslen, SP; Keir, G; Winchester, B	1
Maehlen, J; Strøm, EH; Strømme, P; Torvik, A	1
Jaeken, J; Stibler, H	1

Reviews

7 review(s) available for transferrin and Carbohydrate Metabolism, Inborn Error

Article	Year
Mass spectrometry for congenital disorders of glycosylation, CDG. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2006, Jun-21, Volume: 838, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Glycoproteins; Glycosylation; Humans; Mass Spectrometry; Models, Biological; Oligosaccharides; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2006
Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms. Molecular diagnosis & therapy, 2007, Volume: 11, Issue:5 Topics: Carbohydrate Metabolism, Inborn Errors; Congenital Disorders of Glycosylation; Glycosylation; Humans; Models, Biological; Transferrin	2007
The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation. Biochemical Society transactions, 1995, Volume: 23, Issue:1 Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Glycoproteins; Glycosylation; Humans; Syndrome; Transferrin	1995
[Carbohydrate-deficient glycoprotein syndrome: N-linked oligosaccharide transfer deficiency]. Seikagaku. The Journal of Japanese Biochemical Society, 1994, Volume: 66, Issue:11 Topics: Carbohydrate Metabolism, Inborn Errors; Endoplasmic Reticulum; Female; Glycoproteins; Humans; Male; Syndrome; Transferrin	1994
The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology, 1993, Volume: 3, Issue:5 Topics: Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Female; Glycoproteins; Humans; Male; Molecular Sequence Data; Syndrome; Transferrin	1993
Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study. Biological chemistry, 2001, Volume: 382, Issue:2 Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Congenital Disorders of Glycosylation; Glycosylation; Humans; Mammals; Molecular Biology; Proteins; Saccharomyces cerevisiae; Transferrin	2001
The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta paediatrica Scandinavica. Supplement, 1991, Volume: 375 Topics: Adolescent; Adult; alpha-Fetoproteins; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fetal Blood; Genes, Recessive; Glycoproteins; Humans; Infant; Intellectual Disability; Liver Diseases; Male; Middle Aged; Nervous System Diseases; Prenatal Diagnosis; Transferrin	1991

Other Studies

55 other study(ies) available for transferrin and Carbohydrate Metabolism, Inborn Error

Article	Year
On the nomenclature of congenital disorders of glycosylation (CDG). Journal of inherited metabolic disease, 2008, Volume: 31, Issue:6 Topics: Carbohydrate Metabolism, Inborn Errors; Glycosylation; Humans; Metabolic Diseases; Terminology as Topic; Transferrin	2008
Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF). Clinical biochemistry, 2009, Volume: 42, Issue:4-5 Topics: Area Under Curve; Carbohydrate Metabolism, Inborn Errors; Case-Control Studies; Chromatography, High Pressure Liquid; Diet; Edetic Acid; Fructose Intolerance; Galactosemias; Glycosylation; Humans; Isoelectric Focusing; Mass Screening; Reference Values; Reproducibility of Results; Transferrin	2009
Transferrin D protein variants in the diagnosis of congenital disorders of glycosylation (CDG). Journal of clinical laboratory analysis, 2009, Volume: 23, Issue:2 Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Genetic Testing; Glycosylation; Humans; Infant; Isoelectric Focusing; Male; Middle Aged; Protein Isoforms; Transferrin	2009
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2009, Aug-15, Volume: 877, Issue:24 Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, High Pressure Liquid; Electrophoresis, Capillary; Female; Glycosylation; Humans; Infant; Male; Transferrin; Young Adult	2009
Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. Glycobiology, 2003, Volume: 13, Issue:5 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Fucose; Glycoproteins; Glycoside Hydrolases; Glycosylation; Humans; Isoelectric Focusing; Liver Cirrhosis; Neuraminidase; Oligosaccharides; Phosphotransferases (Phosphomutases); Polysaccharides; Sequence Analysis, DNA; Transferrin	2003
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:8 Topics: Carbohydrate Metabolism, Inborn Errors; Female; Glycosylation; Humans; Infant, Newborn; Isoelectric Focusing; Lysosomes; Male; Mutation; Phosphotransferases (Phosphomutases); Radioimmunoassay; Retrospective Studies; Spain; Transferrin	2002
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. Glycobiology, 2003, Volume: 13, Issue:9 Topics: Carbohydrate Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Electrophoresis, Polyacrylamide Gel; Glycoproteins; Glycosylation; Humans; Hydrogen-Ion Concentration; Immunoglobulin G; Molecular Structure; N-Acetylglucosaminyltransferases; Polysaccharides; Protein Isoforms; Proteome; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2003
Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Clinical chemistry, 2004, Volume: 50, Issue:1 Topics: Adolescent; Carbohydrate Metabolism, Inborn Errors; Electrophoresis, Capillary; Female; Glycosylation; Humans; Isoelectric Focusing; Male; Protein Isoforms; Serum; Transferrin	2004
Mass spectrometric analysis of human transferrin in different body fluids. Clinical chemistry and laboratory medicine, 2003, Volume: 41, Issue:12 Topics: Body Fluids; Carbohydrate Metabolism, Inborn Errors; Chromatography, Liquid; Humans; Protein Isoforms; Spectrometry, Mass, Electrospray Ionization; Transferrin	2003
Defective protein glycosylation in patients with cutis laxa syndrome. European journal of human genetics : EJHG, 2005, Volume: 13, Issue:4 Topics: Apolipoproteins C; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Consanguinity; Cutis Laxa; Extracellular Matrix Proteins; Female; Glycosylation; Humans; Infant, Newborn; Isoelectric Focusing; Male; Mutation; Pedigree; Polysaccharides; Recombinant Proteins; Syndrome; Transferrin	2005
Improvement of CDG diagnosis by combined examination of several glycoproteins. Journal of inherited metabolic disease, 2004, Volume: 27, Issue:5 Topics: Adolescent; Adult; alpha 1-Antichymotrypsin; alpha 1-Antitrypsin; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; DNA Mutational Analysis; Dolichols; Female; Glycoproteins; Glycosylation; Humans; Infant; Infant, Newborn; Isoelectric Focusing; Male; Oligosaccharides; Transferrin	2004
Our experience with diagnostics of congenital disorders of glycosylation. Acta medica (Hradec Kralove), 2004, Volume: 47, Issue:4 Topics: Adolescent; Adult; alpha 1-Antitrypsin; Biomarkers; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Glycoproteins; Glycosylation; Humans; Infant; Isoelectric Focusing; Middle Aged; Transferrin	2004
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. Biochimica et biophysica acta, 2005, Jun-30, Volume: 1741, Issue:1-2 Topics: Apolipoproteins C; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Consanguinity; Cutis Laxa; Extracellular Matrix Proteins; Genes, Recessive; Glycosylation; Humans; Infant; Isoelectric Focusing; Mass Spectrometry; Nervous System Diseases; Pedigree; Polysaccharides; Transferrin	2005
Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. Pediatric research, 2005, Volume: 58, Issue:2 Topics: Alternative Splicing; Blotting, Western; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Chromatography, High Pressure Liquid; Electrophoresis, Polyacrylamide Gel; Endoplasmic Reticulum; Fetal Proteins; Glycosylation; Humans; Isoelectric Focusing; Lipids; Male; Mannosyltransferases; Mutation; Oligosaccharides; Phenotype; Polysaccharides; Prenatal Diagnosis; Reverse Transcriptase Polymerase Chain Reaction; Time Factors; Transferrin	2005
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. Glycobiology, 2005, Volume: 15, Issue:12 Topics: Apolipoprotein C-III; Apolipoproteins C; Carbohydrate Metabolism, Inborn Errors; Densitometry; Electrophoresis, Polyacrylamide Gel; Glycoside Hydrolases; Glycosylation; Humans; Isoelectric Focusing; N-Acetylneuraminic Acid; Neuraminidase; Oligosaccharides; Polysaccharides; Protein Isoforms; Transferrin	2005
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5 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
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6 Topics: Brain; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Female; Homozygote; Humans; Immunoglobulin G; Magnetic Resonance Imaging; Male; Mannosyltransferases; Psychomotor Disorders; Sialoglycoproteins; Transferrin; Urogenital Abnormalities	2005
Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6 Topics: Alleles; Carbohydrate Metabolism, Inborn Errors; Child; Developmental Disabilities; Female; Genotype; Glycosylation; Humans; Leukocytes; Mutation; Phenotype; Phosphotransferases (Phosphomutases); Time Factors; Transferrin	2005
Diagnosis of congenital disorders of glycosylation type-I using protein chip technology. Proteomics, 2006, Volume: 6, Issue:7 Topics: Amino Acid Sequence; Carbohydrate Metabolism, Inborn Errors; Electrophoresis, Gel, Two-Dimensional; Glycoproteins; Glycosylation; Humans; Molecular Sequence Data; Polymorphism, Genetic; Protein Array Analysis; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2006
Use of serum on Guthrie cards in screening for congenital disorders of glycosylation. Clinical chemistry, 2006, Volume: 52, Issue:4 Topics: Blood Specimen Collection; Carbohydrate Metabolism, Inborn Errors; Glycosylation; Humans; Infant, Newborn; Neonatal Screening; Serum; Transferrin	2006
Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child, Preschool; Chromatography, Liquid; Diagnosis, Differential; Glycosylation; Humans; Isoelectric Focusing; Mass Spectrometry; Protein Isoforms; Reproducibility of Results; Transferrin	2006
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation. Pediatrics, 2006, Volume: 118, Issue:2 Topics: alpha-2-Antiplasmin; Apnea; Brain; Carbohydrate Metabolism, Inborn Errors; Cerebral Hemorrhage; Cholelithiasis; Clubfoot; Contracture; Fatal Outcome; Glycoproteins; Glycosylation; Hematoma, Subdural; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Muscle Hypertonia; Protein Processing, Post-Translational; Respiratory Insufficiency; Spectrometry, Mass, Electrospray Ionization; Transferrin	2006
Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops. Prenatal diagnosis, 2006, Volume: 26, Issue:10 Topics: Abnormalities, Multiple; Adult; Carbohydrate Metabolism, Inborn Errors; Cordocentesis; Female; Fetal Death; Glycosylation; Humans; Hydrops Fetalis; Isoelectric Focusing; Phosphotransferases (Phosphomutases); Prenatal Diagnosis; Transferrin	2006
Effect of glycosylation on the protein pattern in 2-D-gel electrophoresis. Proteomics, 2007, Volume: 7, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Electrophoresis, Gel, Two-Dimensional; Glycosylation; Humans; Orosomucoid; Polysaccharides; Proteome; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2007
Enzyme linked lectin assay (ELLA) for direct analysis of transferrin sialylation in serum samples. Clinical biochemistry, 2007, Volume: 40, Issue:9-10 Topics: Alcoholism; Carbohydrate Metabolism, Inborn Errors; Chromatography, Ion Exchange; Enzyme-Linked Immunosorbent Assay; Glycosylation; Humans; N-Acetylneuraminic Acid; Plant Lectins; Reproducibility of Results; Transferrin	2007
COG8 deficiency causes new congenital disorder of glycosylation type IIh. Human molecular genetics, 2007, Apr-01, Volume: 16, Issue:7 Topics: Adaptor Proteins, Vesicular Transport; Biological Transport; Blotting, Western; Brefeldin A; Carbohydrate Metabolism, Inborn Errors; Child; Endoplasmic Reticulum; Fibroblasts; Fluorescent Antibody Technique; Glycosylation; Golgi Apparatus; Golgi Matrix Proteins; Humans; Lentivirus; Male; Membrane Proteins; Mutation; Polysaccharides; Spectrometry, Mass, Electrospray Ionization; Transferrin	2007
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. European journal of human genetics : EJHG, 2007, Volume: 15, Issue:6 Topics: Abnormalities, Multiple; Adaptor Proteins, Vesicular Transport; Apolipoprotein C-III; Carbohydrate Metabolism, Inborn Errors; Failure to Thrive; Fatal Outcome; Female; Glycosylation; Golgi Apparatus; Humans; Infant; Infant, Newborn; Isoelectric Focusing; Male; Microcephaly; Mutation; Syndrome; Thumb; Transferrin	2007
Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Glycosylation; Humans; Infant; Isoelectric Focusing; Male; Meningitis, Bacterial; Pneumococcal Infections; Sialoglycoproteins; Transferrin	2007
Mass spectrometry in the detection and diagnosis of congenital disorders of glycosylation. European journal of mass spectrometry (Chichester, England), 2007, Volume: 13, Issue:1 Topics: Carbohydrate Metabolism, Inborn Errors; Glycoproteins; Glycosylation; Humans; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2007
Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2008, Volume: 12, Issue:3 Topics: Apolipoprotein C-III; Carbohydrate Metabolism, Inborn Errors; Democratic Republic of the Congo; Female; Glycosylation; Humans; Infant; Isoelectric Focusing; Polysaccharides; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2008
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. Clinical chemistry, 2008, Volume: 54, Issue:1 Topics: Adolescent; alpha 1-Antitrypsin; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Glycosylation; Humans; Infant; Infant, Newborn; Isoelectric Focusing; Mass Screening; Plasma; Polymorphism, Genetic; Protein Isoforms; Reference Values; Serum; Transferrin	2008
Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2008, Volume: 12, Issue:3 Topics: Abnormalities, Multiple; Apolipoprotein C-III; Carbohydrate Metabolism, Inborn Errors; Cerebral Cortex; Cutis Laxa; Female; Glycosylation; Humans; Infant, Newborn; Isoelectric Focusing; Magnetic Resonance Imaging; Transferrin	2008
Detection of hypo-N-glycosylation using mass spectrometry of transferrin. Current protocols in human genetics, 2007, Volume: Chapter 17 Topics: Carbohydrate Metabolism, Inborn Errors; Glycosylation; Humans; Mass Spectrometry; Transferrin	2007
Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay. Archives of disease in childhood, 1995, Volume: 72, Issue:5 Topics: Abnormalities, Multiple; Carbohydrate Metabolism, Inborn Errors; Deafness; Glycoproteins; Humans; Infant, Newborn; Male; Nephrotic Syndrome; Syndrome; Thyroid Gland; Transferrin	1995
Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. Acta paediatrica (Oslo, Norway : 1992), 1995, Volume: 84, Issue:6 Topics: Adolescent; Adult; Biomarkers; Carbohydrate Metabolism, Inborn Errors; Child; Erythropoietin; Female; Follicle Stimulating Hormone; Glycoproteins; Humans; Hypogonadism; Infant; Isoelectric Focusing; Luteinizing Hormone; Male; Pituitary Hormones, Anterior; Thyrotropin; Transferrin	1995
Concerning "Agamanolis disease". American journal of medical genetics, 1995, Apr-10, Volume: 56, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Cholesterol; Glycoproteins; Glycosylation; Humans; Lipid Metabolism, Inborn Errors; Syndrome; Transferrin	1995
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. Archives of disease in childhood, 1994, Volume: 71, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Child; Fibroblasts; Glycoproteins; Glycosylation; Golgi Apparatus; Humans; Isoelectric Focusing; Male; Molecular Sequence Data; N-Acetylglucosaminyltransferases; Transferrin	1994
Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet (London, England), 1993, Apr-10, Volume: 341, Issue:8850 Topics: alpha 1-Antitrypsin; Carbohydrate Metabolism, Inborn Errors; Female; Glycoproteins; Humans; Infant, Newborn; Olivopontocerebellar Atrophies; Prenatal Diagnosis; Transferrin	1993
Diagnosis of carbohydrate-deficient glycoprotein syndrome by matrix-assisted laser desorption time-of-flight mass spectrometry. Biological mass spectrometry, 1994, Volume: 23, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Glycoproteins; Humans; Mass Spectrometry; Sialic Acids; Syndrome; Transferrin	1994
Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome. Journal of biochemistry, 1993, Volume: 114, Issue:6 Topics: Amino Acid Sequence; Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Glycopeptides; Glycoproteins; Humans; Isomerism; Mass Spectrometry; Molecular Sequence Data; Molecular Weight; Syndrome; Transferrin	1993
Laser desorption time-of-flight mass spectrometric analysis of transferrin precipitated with antiserum: a unique simple method to identify molecular weight variants. Biological mass spectrometry, 1994, Volume: 23, Issue:4 Topics: Carbohydrate Metabolism, Inborn Errors; Glycoproteins; Humans; Immune Sera; Lasers; Mass Spectrometry; Transferrin	1994
Early manifestations of the carbohydrate-deficient glycoprotein syndrome. The Journal of pediatrics, 1993, Volume: 122, Issue:1 Topics: Biomarkers; Carbohydrate Metabolism, Inborn Errors; Cerebellum; Failure to Thrive; Female; Glycoproteins; Humans; Infant; Male; Psychomotor Disorders; Syndrome; Transferrin	1993
Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency. The Journal of biological chemistry, 1993, Mar-15, Volume: 268, Issue:8 Topics: Asparagine; Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Carbohydrates; Chromatography, Affinity; Chromatography, Gel; Electrophoresis, Polyacrylamide Gel; Humans; Isoelectric Point; Lectins; Metabolism, Inborn Errors; Molecular Sequence Data; Oligosaccharides; Syndrome; Transferrin	1993
Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots. Acta paediatrica (Oslo, Norway : 1992), 1993, Volume: 82, Issue:1 Topics: Blood Specimen Collection; Carbohydrate Metabolism, Inborn Errors; Female; Glycoproteins; Humans; Infant, Newborn; Isoelectric Focusing; Male; Syndrome; Transferrin	1993
Renal cysts in the carbohydrate-deficient glycoprotein syndrome. Pediatric nephrology (Berlin, Germany), 1993, Volume: 7, Issue:3 Topics: Biomarkers; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Glycoproteins; Humans; Infant; Kidney Diseases, Cystic; Kidney Medulla; Male; Syndrome; Transferrin; Ultrasonography	1993
Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation. Clinical chemistry and laboratory medicine, 2000, Volume: 38, Issue:10 Topics: Adolescent; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Glycosylation; Humans; Infant; Infant, Newborn; Transferrin	2000
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. The Biochemical journal, 2001, Oct-15, Volume: 359, Issue:Pt 2 Topics: alpha 1-Antitrypsin; Amidohydrolases; Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Case-Control Studies; Electrophoresis, Gel, Two-Dimensional; Fucose; Glycosylation; Humans; Molecular Sequence Data; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Polysaccharides; Protein Processing, Post-Translational; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2001
Congenital disorders of glycosylation syndromes. Developmental medicine and child neurology, 2002, Volume: 44, Issue:5 Topics: Asialoglycoproteins; Carbohydrate Metabolism, Inborn Errors; Cerebellar Ataxia; Cerebellum; Child; Child, Preschool; Congenital Disorders of Glycosylation; Female; Glycosylation; Humans; Male; Phosphotransferases (Phosphomutases); Transferrin	2002
Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biochemical and biophysical research communications, 1992, Dec-15, Volume: 189, Issue:2 Topics: Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Affinity; Chromatography, High Pressure Liquid; Female; Glycosylation; Humans; Male; Mass Spectrometry; Molecular Weight; Sialic Acids; Syndrome; Transferrin	1992
The carbohydrate deficient glycoprotein syndrome in three Japanese children. Brain & development, 1992, Volume: 14, Issue:1 Topics: Adolescent; alpha 1-Antitrypsin; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Female; Glycoproteins; Humans; Isoelectric Focusing; Japan; Male; Phenotype; Syndrome; Transferrin	1992
Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis? Clinical chemistry, 1992, Volume: 38, Issue:7 Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child, Preschool; Electrophoresis, Gel, Two-Dimensional; Female; Glycoproteins; Humans; Male; Syndrome; Transferrin	1992
A new variant of the carbohydrate deficient glycoproteins syndrome. Journal of inherited metabolic disease, 1991, Volume: 14, Issue:3 Topics: Carbohydrate Metabolism, Inborn Errors; Electromyography; Evoked Potentials; Female; Galactosemias; Glycoproteins; Hexosamines; Humans; Infant; Isoelectric Focusing; Liver; Magnetic Resonance Imaging; Mannose; Sialic Acids; Transferrin	1991
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Archives of disease in childhood, 1991, Volume: 66, Issue:9 Topics: Bile Ducts; Carbohydrate Metabolism, Inborn Errors; Cerebellum; Glycoproteins; Humans; Infant, Newborn; Isoelectric Focusing; Kidney; Liver; Male; Olivopontocerebellar Atrophies; Sialic Acids; Syndrome; Transferrin	1991
[The carbohydrate deficient glycoprotein syndrome]. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1991, Apr-20, Volume: 111, Issue:10 Topics: Abnormalities, Multiple; Biomarkers; Brain; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Glycoproteins; Humans; Intellectual Disability; Male; Nervous System Diseases; Syndrome; Transferrin	1991
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Archives of disease in childhood, 1990, Volume: 65, Issue:1 Topics: Biomarkers; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Growth Disorders; Humans; Isoelectric Focusing; Nervous System Diseases; Syndrome; Transferrin	1990