Page last updated: 2024-08-23

transferrin and Metabolism, Inborn Errors

transferrin has been researched along with Metabolism, Inborn Errors in 18 studies

Research

Studies (18)

Timeframe	Studies, this research(%)	All Research%
pre-1990	6 (33.33)	18.7374
1990's	2 (11.11)	18.2507
2000's	9 (50.00)	29.6817
2010's	1 (5.56)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Bons, JAP; Brouwers, MCGJ; Cassiman, D; Debray, FG; Feskens, EJM; Hodson, L; Hollak, CEM; Koek, GH; Kooi, ME; Lefeber, DJ; Lindeboom, L; Schalkwijk, CG; Schaper, NC; Simons, N; Stehouwer, CDA	1
Adamowicz, M; Guillard, M; Hoppenreijs, E; Lefeber, DJ; Morava, E; Sengers, RCA; Sykut-Cegielska, J; Truin, G; Wevers, RA	1
Pérez, B; Pérez-Cerdá, C; Richard, E; Roche, C; Ugarte, M; Vega, AI; Velázquez, R	1
Assmann, B; Fang, J; Hackler, R; Helwig-Rolig, A; Hoffmann, GF; Jakobi, R; Körner, C; Peters, V; Prietsch, V; Schaefer, JR	1
Dalluge, JJ	1
Arndt, T; Gressner, A; Herwig, J; Meier, U; Sewell, AC	1
Grünewald, S; Huijben, KM; Lefeber, DJ; Mollicone, R; Morava, E; van Engelen, BG; Wevers, RA; Wopereis, S	1
Aylsworth, AS; Basinger, AA; Freeze, HH; Güçsavaş-Calikoğlu, M; Henderson, FW; Kranz, C; Powell, CM; Sun, L	1
Biondi, A; Coliva, T; Ganz, T; Mariani, R; Nemeth, E; Piperno, A; Trombini, P	1
Biffi, S; Bortot, B; Carrozzi, M; Severini, GM; Tamaro, G; Zamberlan, S	1
Skovby, F; Stibler, H	1
Fukushima, K; Ideo, H; Ohkura, T; Ohno, K; Takeshita, K; Yamashita, K; Yuasa, I	1
Crosby, WH	1
Andersson, M; Hagberg, B; Kristiansson, B; Tonnby, B	1
Jaeken, J	1
Bezkorovainy, A; Zschocke, RH	1
Kozuru, M	1
Abad Alonso, JA	1

Reviews

4 review(s) available for transferrin and Metabolism, Inborn Errors

Article	Year
Mass spectrometry: an emerging alternative to traditional methods for measurement of diagnostic proteins, peptides and amino acids. Current protein & peptide science, 2002, Volume: 3, Issue:2 Topics: Amino Acids; Hemoglobins; Homocysteine; Humans; Infant, Newborn; Mass Screening; Mass Spectrometry; Metabolism, Inborn Errors; Peptides; Prealbumin; Proteins; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2002
Hemochromatosis: the unsolved problems. Seminars in hematology, 1977, Volume: 14, Issue:2 Topics: Hemochromatosis; Humans; Iron; Liver; Metabolism, Inborn Errors; Transferrin	1977
Structure and function of transferrins. II. Transferrin and iron metabolism. Arzneimittel-Forschung, 1974, Volume: 24, Issue:5 Topics: Anemia, Hypochromic; Animals; Bacteria; Blood Proteins; Bone Marrow; Diet; Female; Fungi; Hemochromatosis; Hemosiderosis; Humans; Intestinal Absorption; Intestinal Mucosa; Iron; Lactoferrin; Liver; Male; Metabolism, Inborn Errors; Mice; Rabbits; Rats; Reticulocytes; Spleen; Transferrin	1974
[Liver cirrhosis with siderosis. II]. Revista clinica espanola, 1970, Feb-28, Volume: 116, Issue:4 Topics: Biological Transport; Diagnosis, Differential; Gastric Juice; Hemochromatosis; Humans; Iron; Liver Cirrhosis; Metabolism, Inborn Errors; Methods; Siderosis; Transferrin	1970

Other Studies

14 other study(ies) available for transferrin and Metabolism, Inborn Errors

Article	Year
Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content. The Journal of clinical endocrinology and metabolism, 2019, 11-01, Volume: 104, Issue:11 Topics: 3-Hydroxybutyric Acid; Adult; Blood Glucose; Body Composition; Body Mass Index; Case-Control Studies; Diet; Female; Fructose Intolerance; Fructose-Bisphosphate Aldolase; Glucose; Humans; Liver; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Middle Aged; Transferrin; Triglycerides; Young Adult	2019
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Molecular genetics and metabolism, 2008, Volume: 94, Issue:4 Topics: Ascitic Fluid; Cytokines; Fatal Outcome; Female; Glycosylation; Humans; Infant; Male; Metabolism, Inborn Errors; Pericardial Effusion; Phosphotransferases (Phosphomutases); Transferrin	2008
Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE. Biochemical and biophysical research communications, 2009, Feb-06, Volume: 379, Issue:2 Topics: alpha 1-Antitrypsin; alpha-Macroglobulins; Carrier Proteins; Child; Child, Preschool; Electrophoresis, Gel, Two-Dimensional; Female; Fibrin; Fibrinogen; Glycoproteins; Glycosylation; Humans; Isoelectric Focusing; Metabolism, Inborn Errors; Protein Biosynthesis; Proteins; Proteome; Proteomics; Serum; Serum Albumin; Serum Albumin, Human; Transferrin	2009
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:2 Topics: alpha 1-Antitrypsin; Dystonia; Female; Glycoproteins; Glycosylation; Hand; Humans; Infant; Isoelectric Focusing; Metabolism, Inborn Errors; Movement; Optic Atrophy; Transferrin	2002
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): experience with four independent CDT analysis methods--misleading results given by the %CDT TIA assay. Clinica chimica acta; international journal of clinical chemistry, 2006, Volume: 373, Issue:1-2 Topics: Adolescent; Adult; Antibodies, Monoclonal; Argininosuccinate Lyase; Argininosuccinic Aciduria; Child; Child, Preschool; Chromatography, High Pressure Liquid; Electrophoresis, Capillary; False Positive Reactions; Humans; Immunoassay; Male; Metabolism, Inborn Errors; Nephelometry and Turbidimetry; Reproducibility of Results; Sensitivity and Specificity; Transferrin	2006
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Clinical chemistry, 2007, Volume: 53, Issue:2 Topics: Adolescent; Apolipoprotein C-III; Child; Child, Preschool; Female; Glycosylation; Humans; Infant; Infant, Newborn; Infant, Premature; Isoelectric Focusing; Male; Metabolism, Inborn Errors; Polysaccharides; Protein Isoforms; Retrospective Studies; Transferrin	2007
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. American journal of medical genetics. Part A, 2007, Jun-15, Volume: 143A, Issue:12 Topics: Agammaglobulinemia; Bone Diseases, Developmental; Cardiomyopathies; DNA Mutational Analysis; Fatal Outcome; Female; Genitalia; Glycosylation; Humans; Infant, Newborn; Lipopolysaccharides; Male; Mannosyltransferases; Metabolism, Inborn Errors; Mutation, Missense; Phenotype; Protein Conformation; Transferrin	2007
Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia. Haematologica, 2007, Volume: 92, Issue:10 Topics: Antimicrobial Cationic Peptides; Blood Transfusion; Child; Hepcidins; Humans; Iron; Male; Metabolism, Inborn Errors; Time Factors; Transferrin	2007
Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). Clinical biochemistry, 2007, Volume: 40, Issue:18 Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Glycosylation; Humans; Immunoassay; Infant; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Middle Aged; Nephelometry and Turbidimetry; Transferrin	2007
Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. Pediatric neurology, 1994, Volume: 11, Issue:1 Topics: alpha-Fetoproteins; Chorionic Villi Sampling; Diseases in Twins; Failure to Thrive; Glycoproteins; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Predictive Value of Tests; Prenatal Diagnosis; Syndrome; Transferrin	1994
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
Disialotransferrin developmental deficiency syndrome. Archives of disease in childhood, 1989, Volume: 64, Issue:1 Topics: Adolescent; Adult; Asialoglycoproteins; Child; Child, Preschool; Developmental Disabilities; Facial Expression; Female; Humans; Intellectual Disability; Isoelectric Focusing; Male; Metabolism, Inborn Errors; Nervous System Diseases; Sialoglycoproteins; Syndrome; Transferrin	1989
Disialotransferrin developmental deficiency syndrome and olivopontocerebellar atrophy. Archives of disease in childhood, 1989, Volume: 64, Issue:5 Topics: Adolescent; Adult; Child; Child, Preschool; Developmental Disabilities; Humans; Metabolism, Inborn Errors; Olivopontocerebellar Atrophies; Sialic Acids; Spinocerebellar Degenerations; Syndrome; Transferrin	1989
[Function and pathophysiology of transferrin]. [Rinsho ketsueki] The Japanese journal of clinical hematology, 1973, Volume: 14, Issue:4 Topics: Electrophoresis; Humans; Iron; Metabolism, Inborn Errors; Transferrin	1973