mannose has been researched along with Congenital Disorders of Glycosylation in 55 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 18 (32.73) | 18.2507 |
| 2000's | 12 (21.82) | 29.6817 |
| 2010's | 17 (30.91) | 24.3611 |
| 2020's | 8 (14.55) | 2.80 |
| Authors | Studies |
|---|---|
| D'Alessio, C; Gallo, GL; Herrera Aguilar, N; Valko, A; Weisz, AD | 1 |
| Akula, SK; Attié-Bitach, T; de Brouwer, APM; Duvet, S; Fortuna, AM; Foulquier, F; Gheldof, A; Jansen, AC; Jorge, P; Lai, A; Loget, P; Maia, N; Nassogne, MC; O'Kane, K; Potelle, S; Proisy, M; Quelin, C; Schulz, C; Sermon, K; Soares, AR; Stouffs, K; Van Schaftingen, E; Walsh, CA; Wiame, E; Yildirim, H | 1 |
| Abu Bakar, N; Ashikov, A; Brum, JM; de Boer, L; de Carvalho, DR; de Mello, WD; de Rizzo, IMPO; Gorman, K; Grunewald, S; Heiner-Fokkema, R; Huijben, K; Janssen, M; Keng, WT; Kersten, M; Lefeber, DJ; Martinelli, D; Michelakakis, H; Moraitou, M; Smeets, R; Speck-Martins, CE; Thiel, C; van den Heuvel, LP; van Scherpenzeel, M | 1 |
| Fuchs, H; Grünert, SC; Hannibal, L; Lausch, E; Marquardt, T; Schumann, A; Spiekerkoetter, U; Sutter, M; Thiel, C | 1 |
| Gallego, D; Gámez, A; Pérez, B; Serrano, M; Vilas, A | 1 |
| DuChesne, I; Grüneberg, M; Marquardt, T; Reunert, J; Taday, R | 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 |
| Edmondson, AC; Freeze, HH; He, M; Johnsen, C; Lam, C; Morava, E; Patterson, MC; Raymond, KM; Witters, P | 1 |
| DuChesne, I; Grüneberg, M; Marquardt, T; Park, JH; Reunert, J; Taday, R | 1 |
| Belloni, G; Frappaolo, A; Fraschini, R; Giansanti, MG; Karimpour-Ghahnavieh, A; Kumagai, T; Piergentili, R; Robinson, S; Sechi, S; Tiemeyer, KH; Tiemeyer, M | 1 |
| Andreotti, G; Brasil, S; Dos Reis Ferreira, V; Francisco, R; Jaeken, J; Marques-da-Silva, D; Morava, E; Pascoal, C; Videira, PA | 1 |
| Biot, C; Foulquier, F; Guérardel, Y; Matthijs, G; Mir, AM; Péanne, R; Vanbeselaere, J; Vicogne, D | 1 |
| Charbono, A; Contreras, E; Del Rio-Tsonis, K; DeRossi, C; Freeze, HH; Grajales-Esquivel, E; Guess, CM; He, P; Ichikawa, M; Krajewski, S; Nayak, J; Ng, BG; Russell, J; Scott, DA; Sharma, V; Srivastava, A; Wang, L | 1 |
| Freeze, HH; He, P; Srikrishna, G | 1 |
| Bamshad, MJ; Chong, JX; Freeze, HH; Ng, BG | 1 |
| Freeze, HH; Ichikawa, M; Sharma, V | 1 |
| Cang, Y; Chan, B; Chen, Y; Clasquin, M; Dorsch, M; Freeze, HH; Histen, G; Jin, S; Lin, Z; Liu, Y; Lu, C; Powe, J; Silverman, L; Singleton, C; Smolen, GA; Su, SM; Thompson, R; Xia, Y; Yan, Z | 1 |
| de Lonlay, P; Seta, N | 1 |
| Bonfert, M; Borggraefe, I; Kappler, M; Reiter, K; Schoen, C; Schroeder, AS | 1 |
| Bravo, Y; Cosford, ND; Dahl, R; Freeze, HH; He, P; Ichikawa, M; Ng, BG; Scott, DA; Sharma, V | 1 |
| DeRossi, C; Gröne, HJ; Hoffmann, GF; Körner, C; Popovici, D; Rindermann, J; Schneider, A; Thiel, C | 1 |
| Gao, N; Kumarasamy, J; Lehrman, MA; Pinto, BM; Seidah, NG; Zandberg, WF | 1 |
| Chu, J; Freeze, HH; Gao, N; Lehrman, MA; Mir, A; Monson, C; Rosa, S; Sadler, KC; Sharma, V; Steet, R | 1 |
| Lehle, L; Tanner, W | 1 |
| Körner, C; Thiel, C | 1 |
| Aiello, C; Barone, R; Bertini, E; Carella, M; Concolino, D; Fiumara, A; Foulquier, F; Garozzo, D; Jaeken, J; Lefeber, DJ; Matthijs, G; Mercuri, E; Messina, S; Morava, E; Passarelli, C; Race, V; Riemersma, M; Santorelli, F; Sturiale, L; Vleugels, W; Wevers, RA | 1 |
| Bertele-Harms, RM; Harms, HK; Kurnik, K; Reiter, K; Weidinger, S; Zimmer, KP | 1 |
| Cartigny, M; Dobbelaere, D; Jaeken, J; Klein, A; Penel-Capelle, D; Weill, J | 1 |
| Damen, G; de Klerk, H; den Hollander, J; Huijmans, J; Sinaasappel, M | 1 |
| Kjaergaard, S | 1 |
| Brantly, M; Gahl, WA; Holt, GD; Krasnewich, DM; Redwine, J; Skovby, F | 1 |
| Freeze, HH; Panneerselvam, K | 1 |
| Alton, G; Etchison, JR; Freeze, HH; Kjaergaard, S; Skovby, F | 1 |
| Etchison, JR; Freeze, HH; Panneerselvam, K; Skovby, F | 1 |
| Bieger, WP; Kohlmüller, D; Mayatepek, E; Nützenadel, W; Schröder, M | 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 |
| Ohno, K | 1 |
| Kohlmüller, D; Mayatepek, E | 1 |
| Freeze, HH; Kjaergaard, S; Kristiansson, B; Martinsson, T; Schwartz, M; Skovby, F; Stibler, H | 1 |
| Hanefeld, F; Holzbach, U; Knauer, R; Körner, C; Lehle, L; von Figura, K | 1 |
| Freeze, HH | 1 |
| Körner, C; Lehle, L; von Figura, K | 1 |
| Codogno, P; Cormier-Daire, V; Dehoux, M; Dupre, T; Durand, G; Moore, SE; Ogier-Denis, E; Seta, N | 1 |
| Houwen, RH; Oren, A | 1 |
| Beaune, G; Castelnau, P; Cuer, M; de Lonlay, P; Durand, G; Kretz, M; Saudubray, JM; Seta, N; Vuillaumier-Barrot, S | 1 |
| Aebi, M; Freeze, HH | 1 |
| Babovic-Vuksanovic, D; Freeze, HH; Mehta, DP; Michels, VV; O'Brien, JF; Patterson, MC; Schwenk, WF; Vockley, J | 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 |
| Gordon, N | 1 |
| Kościelak, J | 1 |
| Hasilik, M; Niehues, R | 1 |
| Davis, JA; Freeze, HH; Kjaergaard, S; Peterson, SM; Skovby, F; Westphal, V | 1 |
| Henderson, MJ; Hendriksz, CJ; Imtiaz, F; Keir, DG; Matthijs, G; McClean, P; Schollen, E; Winchester, BG; Worthington, VC | 1 |
| Boneh, A; Fietz, M; Gold, H; Kelly, DF; Nelson, P; Oliver, MR; Pitsch, S | 1 |
10 review(s) available for mannose and Congenital Disorders of Glycosylation
| Article | Year |
|---|---|
New and potential strategies for the treatment of PMM2-CDG.
Topics: Animals; Antisense Elements (Genetics); Congenital Disorders of Glycosylation; Drug Discovery; Enzyme Inhibitors; Glycosylation; Humans; Mannose; Phosphotransferases (Phosphomutases) | 2020 |
CDG Therapies: From Bench to Bedside.
Topics: Animals; Biomarkers; Clinical Trials as Topic; Congenital Disorders of Glycosylation; Dietary Supplements; Disease Models, Animal; Fucose; Galactose; Genetic Therapy; Glycosylation; Humans; Mannose; Organ Transplantation | 2018 |
Solving glycosylation disorders: fundamental approaches reveal complicated pathways.
Topics: Congenital Disorders of Glycosylation; Exome; Genome, Human; Glucose; Glycogen; Glycosylation; Homeostasis; Humans; Mannose; Mutation | 2014 |
Mannose metabolism: more than meets the eye.
Topics: Animals; Congenital Disorders of Glycosylation; Dietary Carbohydrates; Disease Models, Animal; Female; Gene Knockdown Techniques; Humans; Mannose; Mannose-6-Phosphate Isomerase; Metabolic Flux Analysis; Metabolic Networks and Pathways; Metabolomics; Mice; Phosphotransferases (Phosphomutases); Polysaccharides; Pregnancy; Zebrafish | 2014 |
Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.
Topics: Carbohydrate Metabolism, Inborn Errors; Congenital Disorders of Glycosylation; Diet Therapy; Glycoproteins; Glycosylation; Humans; Male; Mannose; Polysaccharides | 2013 |
[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 |
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 syndromes.
Topics: Adult; Child, Preschool; Congenital Disorders of Glycosylation; Humans; Infant; Mannose; Prognosis | 2000 |
Carbohydrate-deficient glycoprotein syndromes.
Topics: Carbohydrate Sequence; Congenital Disorders of Glycosylation; Dolichols; Glycoproteins; Glycosylation; Humans; Mannose; Molecular Sequence Data; Oligosaccharides; Transferrin | 1999 |
2 trial(s) available for mannose and Congenital Disorders of Glycosylation
| 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 |
Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.
Topics: Adolescent; Blood Chemical Analysis; Blotting, Western; Child; Child, Preschool; Congenital Disorders of Glycosylation; Dietary Supplements; Female; Glycoproteins; Humans; Infant; Male; Mannose; Mutation; Treatment Failure | 1998 |
43 other study(ies) available for mannose and Congenital Disorders of Glycosylation
| Article | Year |
|---|---|
A novel fission yeast platform to model N-glycosylation and the bases of congenital disorders of glycosylation type I.
Topics: Congenital Disorders of Glycosylation; Glycosylation; Humans; Mannose; Oligosaccharides; Schizosaccharomyces | 2022 |
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Topics: Adolescent; Alleles; alpha-Mannosidase; Brain Stem; Cell Line, Tumor; Central Nervous System Cysts; Cerebellar Vermis; Child; Child, Preschool; Congenital Disorders of Glycosylation; Female; Fetus; Glycosylation; Hamartoma; Humans; Hypothalamus; Intellectual Disability; Leukocytes; Male; Mannose; Oligosaccharides; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Polymicrogyria; Tongue | 2022 |
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Topics: Congenital Disorders of Glycosylation; Glycomics; Glycosylation; Humans; Mannose; Mannosyltransferases; N-Acetylglucosaminyltransferases; Oligosaccharides; Polysaccharides | 2022 |
Unsuccessful intravenous D-mannose treatment in PMM2-CDG.
Topics: Congenital Disorders of Glycosylation; Drug Administration Schedule; Fatal Outcome; Humans; Infant; Male; Mannose; Phosphotransferases (Phosphomutases); Transferrins | 2019 |
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).
Topics: Aged; Child; Congenital Disorders of Glycosylation; Dietary Supplements; Female; Humans; Male; Mannose; Phosphotransferases (Phosphomutases); Retrospective Studies | 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 |
Mannose supplementation in PMM2-CDG.
Topics: Congenital Disorders of Glycosylation; Dietary Supplements; Humans; Mannose; Phosphotransferases (Phosphomutases); Prospective Studies | 2021 |
COG7 deficiency in
Topics: Animals; Biological Transport; Congenital Disorders of Glycosylation; Disease Models, Animal; Drosophila melanogaster; Drosophila Proteins; Gait Disorders, Neurologic; Gene Deletion; Gene Expression Regulation, Developmental; Genetic Complementation Test; Glycosylation; Golgi Apparatus; Humans; Larva; Mannose; Neuromuscular Junction; Oncogene Proteins; Phenotype; Polysaccharides; Protein Processing, Post-Translational; rab GTP-Binding Proteins; Vesicular Transport Proteins | 2017 |
Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cells.
Topics: Cells, Cultured; Click Chemistry; Congenital Disorders of Glycosylation; Endoplasmic Reticulum; Fibroblasts; Fluorescent Dyes; Glycoproteins; Glycosylation; Golgi Apparatus; Humans; Mannose; Microscopy, Fluorescence; Protein Processing, Post-Translational; Sialic Acids; Staining and Labeling | 2013 |
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
Topics: Animals; Blindness; Blotting, Western; Cells, Cultured; Congenital Disorders of Glycosylation; Dietary Supplements; Embryo, Mammalian; Eye; Female; Humans; Immunohistochemistry; Male; Mannose; Mannose-6-Phosphate Isomerase; Mannosephosphates; Mice; Mice, 129 Strain; Mice, Inbred C57BL; Mice, Knockout; Mice, Transgenic; Placenta; Pregnancy | 2014 |
N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response.
Topics: Animals; Cells, Cultured; Congenital Disorders of Glycosylation; Dietary Supplements; Glycosylation; Humans; Inflammation; Intercellular Adhesion Molecule-1; Mannose; Mannose-6-Phosphate Isomerase; Mice; Mice, Inbred C57BL; Mice, Knockout; Mutation; Peritonitis; Zymosan | 2014 |
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
Topics: Animals; Biomarkers; Congenital Disorders of Glycosylation; Cytokine Receptor gp130; Disease Models, Animal; Fibroblasts; Gene Expression Regulation; Genotype; Glycosylation; Humans; Mannose; Mice; Mutation; Phosphotransferases (Phosphomutases) | 2016 |
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.
Topics: Child, Preschool; Congenital Disorders of Glycosylation; Female; Glycosylation; Heparin; Humans; Infant; Mannose; Mannose-6-Phosphate Isomerase; Protein-Losing Enteropathies; Young Adult | 2009 |
Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG).
Topics: Adenosine Triphosphate; Biomarkers; Blood Glucose; Congenital Disorders of Glycosylation; Electroencephalography; Energy Metabolism; Genetic Predisposition to Disease; Glucose; Humans; Infusions, Intravenous; Injections, Intravenous; Magnetic Resonance Imaging; Male; Mannose; Mannose-6-Phosphate Isomerase; Phenotype; Seizures; Stupor; Time Factors; Treatment Outcome; Young Adult | 2010 |
Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.
Topics: Animals; Congenital Disorders of Glycosylation; Enzyme Inhibitors; Fibroblasts; Glycosylation; HeLa Cells; Humans; Mannose; Mannose-6-Phosphate Isomerase; Mannosephosphates; Mutation; Phosphotransferases (Phosphomutases); Zebrafish | 2011 |
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
Topics: Animals; Congenital Disorders of Glycosylation; Disease Models, Animal; Embryonic Development; Female; Genes, Lethal; Glycosylation; Humans; Mannose; Mice; Phosphotransferases (Phosphomutases); Pregnancy; Prenatal Care | 2011 |
5-thiomannosides block the biosynthesis of dolichol-linked oligosaccharides and mimic class I congenital disorders of glycosylation.
Topics: Animals; Cells, Cultured; CHO Cells; Congenital Disorders of Glycosylation; Cricetinae; Disease Models, Animal; Dolichols; Mannose; Mice; Oligosaccharides | 2012 |
A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.
Topics: Animals; Base Sequence; Congenital Disorders of Glycosylation; Dietary Supplements; Disease Models, Animal; Gene Knockdown Techniques; Humans; Mannose; Mannose-6-Phosphate Isomerase; Mice; Morpholinos; Mutation; Phenotype; Zebrafish | 2013 |
More than 40 years of glycobiology in Regensburg.
Topics: Animals; Congenital Disorders of Glycosylation; Drosophila melanogaster; Germany; Glycomics; Glycosylation; History, 20th Century; History, 21st Century; Humans; Mannose; Proteins; Saccharomyces cerevisiae | 2012 |
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Coagulation Protein Disorders; Congenital Disorders of Glycosylation; DNA Mutational Analysis; Drug Resistance; Dystroglycans; Electromyography; Endoplasmic Reticulum; Epilepsy; Female; Fibroblasts; Glycosylation; Humans; Infant; Isoelectric Focusing; Liver Diseases; Male; Mannose; Mannosyltransferases; Microcephaly; Middle Aged; Molecular Sequence Data; Muscular Dystrophies; Mutation; Mutation, Missense; Pregnancy; Vision Disorders; Young Adult | 2012 |
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency.
Topics: Child; Congenital Disorders of Glycosylation; Endoplasmic Reticulum; Glycosylation; Humans; Male; Mannose; Mannose-6-Phosphate Isomerase | 2002 |
Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms.
Topics: Congenital Disorders of Glycosylation; DNA Mutational Analysis; Female; Gastrointestinal Diseases; Glycosylation; Hepatomegaly; Humans; Hyperinsulinism; Hypoglycemia; Infant; Mannose; Mutation | 2003 |
Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.
Topics: Adolescent; Adult; Age of Onset; Alanine Transaminase; Blood Coagulation Disorders; Child; Child, Preschool; Congenital Disorders of Glycosylation; Duodenum; Failure to Thrive; Female; Glucosyltransferases; Glycosylation; Hepatomegaly; Humans; Infant; Liver; Liver Cirrhosis; Male; Mannose; Mannose-6-Phosphate Isomerase; Netherlands; Phosphotransferases (Phosphomutases); Protein-Losing Enteropathies; Retrospective Studies | 2004 |
Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies.
Topics: Congenital Disorders of Glycosylation; Genotype; Humans; Mannose; Mannose-6-Phosphate Isomerase; Mutation; Phenotype; Phosphotransferases (Phosphomutases) | 2004 |
Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.
Topics: Congenital Disorders of Glycosylation; Dolichols; Electrophoresis, Polyacrylamide Gel; Female; Fibroblasts; Glycosylation; Humans; Infant; Isoelectric Focusing; Male; Mannose; Monosaccharides; N-Acetylneuraminic Acid; Oligosaccharides; Phosphorylation; Sialic Acids | 1995 |
Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.
Topics: Cell Line; Congenital Disorders of Glycosylation; Fibroblasts; Glycosylation; Humans; Lipid Metabolism; Mannose; Oligosaccharides | 1996 |
Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I.
Topics: Administration, Oral; Adult; Child; Congenital Disorders of Glycosylation; Dietary Carbohydrates; Dose-Response Relationship, Drug; Double-Blind Method; Humans; Infant; Kinetics; Mannose | 1997 |
Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.
Topics: Carbohydrate Conformation; Case-Control Studies; Cell Line; Congenital Disorders of Glycosylation; Female; Glycosylation; Humans; Male; Mannose; Phosphotransferases (Phosphomutases) | 1997 |
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 |
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 |
Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency.
Topics: Congenital Disorders of Glycosylation; Dietary Supplements; Humans; Infant; Male; Mannose; Phosphotransferases (Phosphomutases) | 1998 |
Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.
Topics: Cells, Cultured; Congenital Disorders of Glycosylation; Fibroblasts; Glucosyltransferases; Humans; Mannose; Mannose-6-Phosphate Isomerase; Methionine; Oligosaccharides; Phosphotransferases (Phosphomutases); Skin | 1998 |
Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.
Topics: Cells, Cultured; Congenital Disorders of Glycosylation; Fibroblasts; Glucose; Glycosylation; Humans; Mannose; Phosphotransferases (Phosphomutases); Skin | 1998 |
Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients.
Topics: Biological Transport; Cells, Cultured; Congenital Disorders of Glycosylation; Fibroblasts; Glycoproteins; Humans; Mannose; Skin | 1999 |
Phosphomannoseisomerase deficiency as the cause of protein-losing enteropathy and congenital liver fibrosis.
Topics: Congenital Disorders of Glycosylation; Humans; Infant; Liver Cirrhosis; Mannose; Mannose-6-Phosphate Isomerase; Protein-Losing Enteropathies | 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 |
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.
Topics: Child, Preschool; Congenital Disorders of Glycosylation; Dietary Supplements; Female; Humans; Hypoglycemia; Mannose; Point Mutation; Sequence Analysis, DNA | 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 |
[Carbohydrate-deficient glycoprotein syndrome (CDGS) type Ib. A hereditary metabolic disease and its therapy].
Topics: Congenital Disorders of Glycosylation; Genetic Carrier Screening; Humans; Mannose; Mannose-6-Phosphate Isomerase | 2000 |
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 |
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 |
Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemma.
Topics: Adolescent; Congenital Disorders of Glycosylation; Diagnosis, Differential; Humans; Infant; Male; Mannose; Mannose-6-Phosphate Isomerase; Treatment Outcome | 2001 |