Page last updated: 2024-08-22

mannose and Congenital Disorders of Glycosylation

mannose has been researched along with Congenital Disorders of Glycosylation in 55 studies

Research

Studies (55)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's18 (32.73)18.2507
2000's12 (21.82)29.6817
2010's17 (30.91)24.3611
2020's8 (14.55)2.80

Authors

AuthorsStudies
D'Alessio, C; Gallo, GL; Herrera Aguilar, N; Valko, A; Weisz, AD1
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, H1
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, M1
Fuchs, H; Grünert, SC; Hannibal, L; Lausch, E; Marquardt, T; Schumann, A; Spiekerkoetter, U; Sutter, M; Thiel, C1
Gallego, D; Gámez, A; Pérez, B; Serrano, M; Vilas, A1
DuChesne, I; Grüneberg, M; Marquardt, T; Reunert, J; Taday, R1
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, S1
Edmondson, AC; Freeze, HH; He, M; Johnsen, C; Lam, C; Morava, E; Patterson, MC; Raymond, KM; Witters, P1
DuChesne, I; Grüneberg, M; Marquardt, T; Park, JH; Reunert, J; Taday, R1
Belloni, G; Frappaolo, A; Fraschini, R; Giansanti, MG; Karimpour-Ghahnavieh, A; Kumagai, T; Piergentili, R; Robinson, S; Sechi, S; Tiemeyer, KH; Tiemeyer, M1
Andreotti, G; Brasil, S; Dos Reis Ferreira, V; Francisco, R; Jaeken, J; Marques-da-Silva, D; Morava, E; Pascoal, C; Videira, PA1
Biot, C; Foulquier, F; Guérardel, Y; Matthijs, G; Mir, AM; Péanne, R; Vanbeselaere, J; Vicogne, D1
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, L1
Freeze, HH; He, P; Srikrishna, G1
Bamshad, MJ; Chong, JX; Freeze, HH; Ng, BG1
Freeze, HH; Ichikawa, M; Sharma, V1
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, Z1
de Lonlay, P; Seta, N1
Bonfert, M; Borggraefe, I; Kappler, M; Reiter, K; Schoen, C; Schroeder, AS1
Bravo, Y; Cosford, ND; Dahl, R; Freeze, HH; He, P; Ichikawa, M; Ng, BG; Scott, DA; Sharma, V1
DeRossi, C; Gröne, HJ; Hoffmann, GF; Körner, C; Popovici, D; Rindermann, J; Schneider, A; Thiel, C1
Gao, N; Kumarasamy, J; Lehrman, MA; Pinto, BM; Seidah, NG; Zandberg, WF1
Chu, J; Freeze, HH; Gao, N; Lehrman, MA; Mir, A; Monson, C; Rosa, S; Sadler, KC; Sharma, V; Steet, R1
Lehle, L; Tanner, W1
Körner, C; Thiel, C1
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, RA1
Bertele-Harms, RM; Harms, HK; Kurnik, K; Reiter, K; Weidinger, S; Zimmer, KP1
Cartigny, M; Dobbelaere, D; Jaeken, J; Klein, A; Penel-Capelle, D; Weill, J1
Damen, G; de Klerk, H; den Hollander, J; Huijmans, J; Sinaasappel, M1
Kjaergaard, S1
Brantly, M; Gahl, WA; Holt, GD; Krasnewich, DM; Redwine, J; Skovby, F1
Freeze, HH; Panneerselvam, K1
Alton, G; Etchison, JR; Freeze, HH; Kjaergaard, S; Skovby, F1
Etchison, JR; Freeze, HH; Panneerselvam, K; Skovby, F1
Bieger, WP; Kohlmüller, D; Mayatepek, E; Nützenadel, W; Schröder, M1
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, WL1
Ohno, K1
Kohlmüller, D; Mayatepek, E1
Freeze, HH; Kjaergaard, S; Kristiansson, B; Martinsson, T; Schwartz, M; Skovby, F; Stibler, H1
Hanefeld, F; Holzbach, U; Knauer, R; Körner, C; Lehle, L; von Figura, K1
Freeze, HH1
Körner, C; Lehle, L; von Figura, K1
Codogno, P; Cormier-Daire, V; Dehoux, M; Dupre, T; Durand, G; Moore, SE; Ogier-Denis, E; Seta, N1
Houwen, RH; Oren, A1
Beaune, G; Castelnau, P; Cuer, M; de Lonlay, P; Durand, G; Kretz, M; Saudubray, JM; Seta, N; Vuillaumier-Barrot, S1
Aebi, M; Freeze, HH1
Babovic-Vuksanovic, D; Freeze, HH; Mehta, DP; Michels, VV; O'Brien, JF; Patterson, MC; Schwenk, WF; Vockley, J1
Filiano, J; Freeze, HH; Karnes, PS; Kim, S; Mehta, DP; Patterson, MC; Peterson, S; Srikrishna, G; Westphal, V1
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, A1
Gordon, N1
Kościelak, J1
Hasilik, M; Niehues, R1
Davis, JA; Freeze, HH; Kjaergaard, S; Peterson, SM; Skovby, F; Westphal, V1
Henderson, MJ; Hendriksz, CJ; Imtiaz, F; Keir, DG; Matthijs, G; McClean, P; Schollen, E; Winchester, BG; Worthington, VC1
Boneh, A; Fietz, M; Gold, H; Kelly, DF; Nelson, P; Oliver, MR; Pitsch, S1

Reviews

10 review(s) available for mannose and Congenital Disorders of Glycosylation

ArticleYear
New and potential strategies for the treatment of PMM2-CDG.
    Biochimica et biophysica acta. General subjects, 2020, Volume: 1864, Issue:11

    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.
    International journal of molecular sciences, 2018, Apr-27, Volume: 19, Issue:5

    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.
    American journal of human genetics, 2014, Feb-06, Volume: 94, Issue:2

    Topics: Congenital Disorders of Glycosylation; Exome; Genome, Human; Glucose; Glycogen; Glycosylation; Homeostasis; Humans; Mannose; Mutation

2014
Mannose metabolism: more than meets the eye.
    Biochemical and biophysical research communications, 2014, Oct-17, Volume: 453, Issue:2

    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.
    Glycoconjugate journal, 2013, Volume: 30, Issue:1

    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)].
    Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2

    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?
    The Journal of pediatrics, 1998, Volume: 133, Issue:5

    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.
    Biochimica et biophysica acta, 1999, Oct-08, Volume: 1455, Issue:2-3

    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.
    Postgraduate medical journal, 2000, Volume: 76, Issue:893

    Topics: Adult; Child, Preschool; Congenital Disorders of Glycosylation; Humans; Infant; Mannose; Prognosis

2000
Carbohydrate-deficient glycoprotein syndromes.
    Acta biochimica Polonica, 1999, Volume: 46, Issue:3

    Topics: Carbohydrate Sequence; Congenital Disorders of Glycosylation; Dolichols; Glycoproteins; Glycosylation; Humans; Mannose; Molecular Sequence Data; Oligosaccharides; Transferrin

1999

Trials

2 trial(s) available for mannose and Congenital Disorders of Glycosylation

ArticleYear
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
    Orphanet journal of rare diseases, 2021, 02-25, Volume: 16, Issue:1

    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.
    Acta paediatrica (Oslo, Norway : 1992), 1998, Volume: 87, Issue:8

    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

Other Studies

43 other study(ies) available for mannose and Congenital Disorders of Glycosylation

ArticleYear
A novel fission yeast platform to model N-glycosylation and the bases of congenital disorders of glycosylation type I.
    Journal of cell science, 2022, 03-01, Volume: 135, Issue:5

    Topics: Congenital Disorders of Glycosylation; Glycosylation; Humans; Mannose; Oligosaccharides; Schizosaccharomyces

2022
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
    American journal of human genetics, 2022, 02-03, Volume: 109, Issue:2

    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.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:4

    Topics: Congenital Disorders of Glycosylation; Glycomics; Glycosylation; Humans; Mannose; Mannosyltransferases; N-Acetylglucosaminyltransferases; Oligosaccharides; Polysaccharides

2022
Unsuccessful intravenous D-mannose treatment in PMM2-CDG.
    Orphanet journal of rare diseases, 2019, 10-22, Volume: 14, Issue:1

    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).
    Orphanet journal of rare diseases, 2020, 09-22, Volume: 15, Issue:1

    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.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:6

    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.
    Orphanet journal of rare diseases, 2021, 08-11, Volume: 16, Issue:1

    Topics: Congenital Disorders of Glycosylation; Dietary Supplements; Humans; Mannose; Phosphotransferases (Phosphomutases); Prospective Studies

2021
COG7 deficiency in
    Journal of cell science, 2017, Nov-01, Volume: 130, Issue:21

    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.
    Methods in cell biology, 2013, Volume: 118

    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.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2014, Volume: 28, Issue:4

    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.
    Glycobiology, 2014, Volume: 24, Issue:4

    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.
    Human molecular genetics, 2016, 06-01, Volume: 25, Issue:11

    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.
    Biochimica et biophysica acta, 2009, Volume: 1792, Issue:9

    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).
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    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.
    The Journal of biological chemistry, 2011, Nov-11, Volume: 286, Issue:45

    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.
    Nature medicine, 2011, Dec-11, Volume: 18, Issue:1

    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.
    Chembiochem : a European journal of chemical biology, 2012, Feb-13, Volume: 13, Issue:3

    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.
    Disease models & mechanisms, 2013, Volume: 6, Issue:1

    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.
    Biochemical and biophysical research communications, 2012, Aug-31, Volume: 425, Issue:3

    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.
    Annals of neurology, 2012, Volume: 72, Issue:4

    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.
    Acta paediatrica (Oslo, Norway : 1992), 2002, Volume: 91, Issue:10

    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.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:1

    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.
    Journal of pediatric gastroenterology and nutrition, 2004, Volume: 38, Issue:3

    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.
    Danish medical bulletin, 2004, Volume: 51, Issue:4

    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.
    Glycobiology, 1995, Volume: 5, Issue:5

    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.
    The Journal of clinical investigation, 1996, Mar-15, Volume: 97, Issue:6

    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.
    Biochemical and molecular medicine, 1997, Volume: 60, Issue:2

    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.
    Biochemical and molecular medicine, 1997, Volume: 61, Issue:2

    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.
    Acta paediatrica (Oslo, Norway : 1992), 1997, Volume: 86, Issue:10

    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.
    Biochemical and biophysical research communications, 1998, Apr-07, Volume: 245, Issue:1

    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.
    European journal of pediatrics, 1998, Volume: 157, Issue:7

    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.
    Proceedings of the National Academy of Sciences of the United States of America, 1998, Oct-27, Volume: 95, Issue:22

    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.
    Glycoconjugate journal, 1998, Volume: 15, Issue:5

    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.
    Biochimica et biophysica acta, 1999, Mar-30, Volume: 1453, Issue:3

    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.
    Journal of pediatric gastroenterology and nutrition, 1999, Volume: 29, Issue:2

    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.
    The Journal of pediatrics, 1999, Volume: 135, Issue:3

    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.
    The Journal of pediatrics, 1999, Volume: 135, Issue:6

    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)
    The Journal of clinical investigation, 2000, Volume: 105, Issue:2

    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.
    The Journal of clinical investigation, 2000, Volume: 105, Issue:2

    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].
    MMW Fortschritte der Medizin, 2000, Jan-20, Volume: 142, Issue:3 Suppl

    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.
    Molecular genetics and metabolism, 2001, Volume: 73, Issue:1

    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.
    Archives of disease in childhood, 2001, Volume: 85, Issue:4

    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.
    Journal of paediatrics and child health, 2001, Volume: 37, Issue:5

    Topics: Adolescent; Congenital Disorders of Glycosylation; Diagnosis, Differential; Humans; Infant; Male; Mannose; Mannose-6-Phosphate Isomerase; Treatment Outcome

2001