Вродени дефекти на гликозилиране
Keywords:
вродени дефекти на гликозилиране
Abstract
Вродените дефекти на гликозилиране представляват група от редки генетични, заболявания, дължащи се на дефекти в комплексния процес гликозилиране. По настоящем са известни повече от 71 типа, а броят им непрекъснато се увеличава, тъй като гените, които участват в процеса на гликозилиране, представляват 1-2% от човешкия геном. Те се характеризират със значителна клинична хетерогенност, като при повечето от тях се установяват неврологични симптоми. През последните 20 години са разработени ефективни методи за скрининг, диагноза и лечение на вродените дефекти на гликозилиране.
References
Jaeken J., T. Hennet, G. Matthijs, H. Freeze. CDG-nomenclature: Time for a change ! - Biochim Biophys Acta, 1792, 2009, №9, 825-826.
Jaeken J., M. Vanderschueren-Lodeweyckx, P. Caeser, L. Snoeck, L. Corbeel, E. Eggermont. Familial psychomotor retardation markedly fluctuating serum proteins, FSH and GH levels, partial TBG–deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?- Pediatr Res., 14, 1980, 179.
Pérez-Cerdá C. , Girós M.C., Serrano M., Pérez Dueñas B., Ecay M.J , Medrano C., Gort L., Pérez González L. Protocolo de diagnóstico y tratamiento de los defectos congénitos de glicosilación. Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM) / © 2015 Ediciones Mayo, S.A-испански език.
Соколов Т. Костните тумори у децата. София, Изд. Къща ДЛ&М ООД, 2006, 59.
Станчева М. Скрининг за вродени дефекти на гликозилиране при деца с изоставане в умственото развитие, дисертационен труд, 2013 г.
Чамова Т., Е. Титянова, И. Търнев, Р. Димова. Миосонографна оценка на триглавия мускул на подбедрицата при автозомно-рецесивна наследствена миопатия с телца на включване. Невросонология и мозъчна хемодинамика, 7, 2011, 2, 93-100.
Соколов Т., A. Михова. Туморна калциноза. - Ортопедия и травматология, 36, 2000, № 4, 575-580.
Aebi M., A. Helenius, B. Schenk, R. Barone, A. Fiumara, E. Berger. Carbohydrate-deficient syndromes become congenital disorders of glycosylation: and updated nomenclature for CDG. First Int. Workshop on CDGS /letter/. – Glycoconj J., 16, 1999, 669-671.
Божинова В. Диагноза и диференциална диагноза при деца с двигателен дефицит. - Педиатрия, Supplementum за общопрактикуващия, 47, 2007, № 1.
Grunewald S.The clinical spectrum of phosphomannomutase deficiency (CDG-Ia). - Biochim Biophys Acta, 1792, 2009, № 9, 827-834.
Pelletier V., N. Galeano, P. Brochu, C. Morin, A. Weber, C. Roy. Secretory diarrhea with protein losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia and congenital hepatic fibrosis a new syndrome. - J Pediatr., 108, 1986, №1, 61-65.
Babovic-Vuksanovic D., M. Patterson, W. Schwenk, J.F. O'Brien, J. Vockley, H. Freeze, D. Mehta, V. Michels. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. - J. Pediat., 135, 1999, № 6, 775-781.
De Koning T., P. Nikkels, L. Dorland, J. Bekhof, J. de Schrijver, J. van Hattum, O. van Diggelen, M. Duran, R. Berger and B. Poll-The. Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency. - Virchows Arch., 437, 2000, № 1, 101-105.
De Lonlay P., N. Seta. The clinical spectrum of phosphomannoseisomerase deficiency, with an evaluation of mannose treatment of CDG-Ib. - Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1792, 2009, № 9, 841-843.
Niehues R., M. Hasilik. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. - MMW Fortschr Med., 142, 2000, Suppl. 3, 171-2.
Harms H., K. Zimmer, K. Kurnik, R .Bertele-Harms, S. Weidinger, K. Reiter. Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. - Acta Paediatr., 91, 2002, №10, 1065-72.
De Lonlay P., M. Cuer, S. Vuillaumier-Barrot, G. Beaune, P. Castelnau, M. Kretz, G. Durand, J-M. Saudubray, N. Seta. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: a new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. - J Pediat., 135, 1999, № 3, 379-383.
Penel-Capelle D., D. Dobbelaere, J. Jaeken, A. Klein, M. Cartigny, J. Weill. Congenital disorder of glycosylation 1b(CDG-Ib)without gastrointestinal symptoms. - J Inherit Metab Dis., 26, 2003, 83-5.
Радева Б. Диагноза на острата метаболитна чернодробна недостатъчност. - GP News, 2005, №1, 26-27.
Jaeken J., H. van Eick, C. van der Heul, L. Corbeel, R. Eeckels, E. Eggermont. Sialic acid deficient serum and cerebrospinal fluid transferrin in a newly recognized syndrome. - Clin Chim Acta, 144, 1984, № 2-3, 245–247.
Westermeier R. Isoelectrofocusing. - In: Electrophoresis in practice (A guide to methods and applications of DNA and protein separations. Fourth revised and enlarged Edition. Weinheim, Wiley-VCH-Verlag GmbH &CoKGaA, 2008, ISBN 3-527-31181-5, 51-64.
van Geet C., J. Jaeken, K. Freson, T. Lenaerts, J. Arnout, J. Vermylen, M. Hoylaerts. Congenital disorders of glycosylation Ia and IIa are associated with different prime hemostatic complications. - J Inherit Dis., 24, 2001, №4, 477-492.
Edwards M., F. Mc Kenzie, S. O`Callagan, D. Somerset, P. Woodford, J. Spilsbury, M. Fietz, J. Fletcher. Prenatal diagnosis of congenital disorder of glycosylation type Ia by cordocentesis and transferrin isoelectrofocusing of serum of a 27 week fetus with non immune hydrops. – Prenat Diagn., 26, 2006, № 10, 985-988.
Carchon H., C. Ndosimao, S. van Aerschot, J. Jaeken. Use of serum on Guthrie cards in screening for CDG. – Clin Chem., 52, 2006, № 4, 774-775.
Clayton P., B. Winchester, E. Di Tamazo, G. Keir G, Rodeck K. Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in fetus. - Lancet , 341, 1993, № 8850, 956.
Dupre T., M. Cuer, S. Barrot, A. Barnier, V. Cormier-Daire, A. Munnich, G. Durand, N. Seta. Congenital Disorder of Glycosylation Ia with Deficient Phosphomannomutase Activity but Normal Plasma Glycoprotein Pattern. - Clinical chemistry, 47, 2001, № 1, 132-134.
Hahn S., S. Minnich, J. O`Brien. Stabilization of hypoglycosylation in a patient with CDG type Ia. - J Inherit Metab Dis. , 29, 2006, № 1, 235-237.
Stibler H., F. Skovby. Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. -Pediatr Neurol., 11, 1994, №1, 71.
Fletcher J., G. Matthijs, J. Jaeken, E. Van Schaftingen, P. Nelson. Carbohydrate–deficient glycoprotein syndrome: beyond the screen. – J Inherit Metab Dis., 23, 2000, №4, 396-98.
Aebi M., T. Hennet. Congenital disorders of glycosylation: genetic model systems lead the way. -Trends Cell Biol., 11, 2001, № 3, 136-41.
Briones P., M. Vilaseca, M. Garcia-Silva, M. Pineda, J. Colomer, I. Ferrer, J. Artigas, J. Jaeken, A. Chabas. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. – Eur J Paediatr Neurol., 5, 2001, № 3, 127-131.
Brum J., I. Rizzo, D. Mello, E. Carlos. Congenital disorders of glycosylation type Ia: a non progressive encephalopathy associated with multisystemic involvement. – Arq Neuro-Psiquiatr., 66, 2008, № 3, 545-548.
Drouin-Garraud V., M. Belgrand, S. Grunewald, N. Seta, J. Dacher, A. Henocq, G. Matthijs, V. Cormier-Daire, T. Frebourg, P. Saugier-Veber. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. - Am J Med Genet, 101, 2001, № 1, 46-9.
Marklova E., Z. Albahri. Screening and diagnosis of congenital disorders of glycosylation. - Clin Chim Acta., 385, 2007, № 1-2, 6-20.
Rimela-Le-Huu A., H. Henry, I. Kern, S. Hanquinet, S. Roulet-Perez, E. Neuman, A. Supertifurga, C. Bonate, D. Baahausen. Congenital disorder of glycosylation (CDG-Id) and molecular characterization of a new patient.- J Inherit Metab Dis., 2008, DOI-10.1007/s10545-008-0959-x.
Schoffer K., J. O’Sullivan, J. McGill. Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult. - Movement Disorders, 21, 2006, № 6 869–72.
Marquardt T., C. Denecke. Congenital disorders of glycosylation review of their molecular bases clinical presentations and specific therapy. - Eur J Pediatr., 162, 2003, № 6, 359-79.
Mills P., K. Mills, N. Mian, B. Winchester, P. Clayton. Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx. – J Inherit Metab Dis., 26, 2003, № 2-3, 119-34.
Sanz-Nebot V., P. Gonzalez, I. Toro, A. Ribes, J. Barbosa. Characterization of human transferrin glycoforms by capillary electrophoresis and electrospray ionization mass spectrometry. - J Chromatogr B., 798, 2003, № 1, 1-7.
Grubenmann C., C. Frank, S. Kjaergaard, E. Berger, M. Aebi, T. Hennet. ALG12 mannosyltransferase defect in congenital disorder or glycosylation type Ig. - Hum Mol Genet., 11, 2002, № 19, 2331-2339.
Butler M., D. Quelhas, A. Critchley, H. Carchon, H. Hebestreit, R. Hibbert, L. Vilarinho, E. Teles, G. Matthijs, E. Schollen, P. Argibay, D. Harvey, R. Dwek, J. Jaeken and P. Rudd. 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, 13, 2003, № 9, 601-622.
Körner C., L. Lehle, K. von Figura. Abnormal synthesis of mannose-1-phosphate derived carbohydrates in carbohydrate deficient glycoprotein syndrome type 1 fibroblasts with phosphomannomutase deficiency. - Glycobiology, 8, 1998, №2, 165-171.
Marklova E., Z. Albahri. Transferrin D protein variants in the diagnosis of congenital disorders of glycosylation (CDG). - J Clinical Lab Anal., 23, 2009, № 2, 77-81.
Charlwood J., P. Clayton, G. Keir, N. Mian, E.Young, B. Winchester. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling. - Prenat Diagn., 18, 1998, № 7, 693-9.
van Schaftingen E., J. Jaeken. Phosphomannomutase deficiency is a cause of Carbohydrate deficient glycoprotein syndrome type I. - FEBS Lett., 377, 1995, № 3, 318-320.
Lubke T., T. Marquardt, A. Etzioni, E. Hartmann, K. von Figura, C. Korner. Complementation cloning identifies CDG-IIc, a new type of CDG –as a GDP- fucose transporter deficiency. – Nat Genet., 28, 2001, №1, 73-6.
Foulquier F., E. Vasile, E. Schollen, N. Callewaert, T. Raemaekers, D. Quelhas, J. Jaeken, P. Mills, P, B. Winchester, M. Krieger, W. Annaert, G. Matthijs. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.- Proc Natl Acad Sci. USA , 103, 2006, №10, 3764-3769.
Zeevaert R., F. Foulquier, B. Dimitrov, E. Reynders, R. Van Damme-Lombaerts, E. Simeonov, W. Annaert, G. Matthijs, J. Jaeken. Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. - Hum Molec Genet., 18, 2009, № 3, 517-524.
Wu X., R. Steet, O. Bohorov, J. Bakker, J. Newell, M. Krieger, L. Spaapen, S. Kornfeld, H. Freeze. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. - Nature Med., 10, 2004, №5, 518-523.
Foulquier F., D. Ungar, E. Reynders, R. Zeevaert, R, P. Mills, M. Garcia-Silva, P. Briones, B. Winchester, W. Morelle, M. Krieger, W. Annaert, G. Matthijs. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the COG1-COG8 interaction in COG complex formation. - Hum Molec Genet., 16, 2007, № 7, 717-730.
Reynerds E., F. Fouquier, E . Teles, D. Quelhas, W. Morelle, C. Rabouille, W. Annaert, G. Matthijs. Golgi function and dysfunction in the first COG4-deficient CDG type II patient.-Hum Mol Genet, 18, 2009, №17, 3244-3256.
Panneerselvam K., H. Freeze. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. - J Clin Invest., 97, 1996, №6, 1478–87.
Alton G., S. Kjaergaard, J. Etchinson, F. Skovby, H. Freeze. Oral ingestion of mannose elevated blood mannose levels: A first step toward a potential thearapy for Carbohydrate – deficient glycoprotein syndrome type I.- Biochemical and molecular Medicine, 60, 1997, № 2, 127-133.
Etchison J., H. Freeze . Enzymatic assay of D-mannose in serum. - Clin Chem., 43, 1997, №3, 533-538.
Kjaergaard S. Congenital disorders of glycosylation type Ia and Ib/genetic, biochemical and clinical studies. - Danish Medical Bulletin, 51, 2004, №4, 350-363.
Mayatepek E., D. Kohlmüller. Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency. - Eur J Pediatr., 157, 1998, № 7, 605-6.
Hardre R., A. Khaled, A. Willemetz, T. Dupre, S. Moore, C. Gravier-Pelletier, Y. Le Merrer. Mono, di and tri-mannopyranosyl phosphates as mannose-1-prodrugs for potential CDG-Ia therapy. - Bioorg Med Chem Lett., 17, 2007, №1, 152-155.
Eklund E., H. Freeze. The congenital disorders of glycosylation: a multifaceted group of syndromes. – NeuroRx., 3, 2006, № 2, 254-263.
Mention K., F. Lacaille, V. Valayanopoulos, S. Romano, A Kuster, M. Cretz, H. Zaidan, L. Galmiche, F. Jaubert, Y. Keyser, N. Seta, P. de Lonlay. Development of liver disease despite mannose treatment in 2 patients with congenital disorders of glycosylation type Ib. – Mol Genet Metab., 93, 2008, №1, 40-43.
Liem Y., L. Bode, H. Freeze, F. Leebeek, A. Zandbergen, J. Paul-Wilson. Using heparine therapy to reserve protein–losing enteropathy in a patient with CDG-Ib. - Nat Clin Pract Gastroenterol Hepatol., 5, 2008, № 4, 220-224.
Marquardt T., H. Freeze. Congenital disorders of glycosylation: glycosylation defect in man and biological models for their study . - Biol Chem., 382, 2001, №2, 161-77.
Freeze H. Genetic defects in the human glycome . - Nat Rev Genet., 7, 2006, №7, 537-51.
Jaeken J., G. Matthijs, H. Carchon, E. Van Schaftingen. Defects of N-glycan synthesis. -In: Metabolic and molecular bases of inherited disease. 8 ed. C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, B. Childs, K. Kinzler, B. Vogelstein. (Ed.), New York, McGraw-Hill, 2001, 1601-21.
Callewaert N., E. Schollen, A. Vanhecke, J. Jaeken, G. Matthijs, R. Contreras. Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. - Glycobiology, 13, 2003, № 5, 367-75.
Schollen E. S. Kjaergaard, T. Martinsson, S Vuillaumier-Barrot, M. Dunoe, L. Keldermans, N Seta, G Matthijs. Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion. - J Med Genet., 41, 2004b, № 11, 877-880.
Schollen E., K. Martens, E. Geuzens, G. Matthijs. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). - Eur J Hum Genet., 10, 2002, № 10, 643-8.
Matthijs G., E. Schollen, C. Bjursell, A. Erlandson, H. Freeze, F. Imtiaz, S. Kjaergaard, T. Martinsson, M. Schwartz, N. Seta, S. Vuillaumier-Barrot, V. Westphal, B. Winchester. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). -Hum Mutat., 16, 2000, №5, 386–94.
Charlwood J., P. Clayton, G. Keir, N. Mian, E.Young, B. Winchester. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling. - Prenat Diagn., 18, 1998, № 7, 693-9.
Nogueira C., D. Quelhas, L.Vilarinho. Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card. - Mol Genet Metab., 87, 2006, №4, 379.
Schmale G., Е. Conrad, W. Rashkind. The natural history of hereditary multiple exostoses. - J Bone Joint Surg Am., 76, 1994, № 7, 9866-92.
Schollen E., S. Kjaergaard, E. Legius, M. Schwartz, G.Matthijs. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). - Eur J Hum Genet., 8, 2000, № 5, 367-71.
Jaeken J., M. Vanderschueren-Lodeweyckx, P. Caeser, L. Snoeck, L. Corbeel, E. Eggermont. Familial psychomotor retardation markedly fluctuating serum proteins, FSH and GH levels, partial TBG–deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?- Pediatr Res., 14, 1980, 179.
Pérez-Cerdá C. , Girós M.C., Serrano M., Pérez Dueñas B., Ecay M.J , Medrano C., Gort L., Pérez González L. Protocolo de diagnóstico y tratamiento de los defectos congénitos de glicosilación. Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM) / © 2015 Ediciones Mayo, S.A-испански език.
Соколов Т. Костните тумори у децата. София, Изд. Къща ДЛ&М ООД, 2006, 59.
Станчева М. Скрининг за вродени дефекти на гликозилиране при деца с изоставане в умственото развитие, дисертационен труд, 2013 г.
Чамова Т., Е. Титянова, И. Търнев, Р. Димова. Миосонографна оценка на триглавия мускул на подбедрицата при автозомно-рецесивна наследствена миопатия с телца на включване. Невросонология и мозъчна хемодинамика, 7, 2011, 2, 93-100.
Соколов Т., A. Михова. Туморна калциноза. - Ортопедия и травматология, 36, 2000, № 4, 575-580.
Aebi M., A. Helenius, B. Schenk, R. Barone, A. Fiumara, E. Berger. Carbohydrate-deficient syndromes become congenital disorders of glycosylation: and updated nomenclature for CDG. First Int. Workshop on CDGS /letter/. – Glycoconj J., 16, 1999, 669-671.
Божинова В. Диагноза и диференциална диагноза при деца с двигателен дефицит. - Педиатрия, Supplementum за общопрактикуващия, 47, 2007, № 1.
Grunewald S.The clinical spectrum of phosphomannomutase deficiency (CDG-Ia). - Biochim Biophys Acta, 1792, 2009, № 9, 827-834.
Pelletier V., N. Galeano, P. Brochu, C. Morin, A. Weber, C. Roy. Secretory diarrhea with protein losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia and congenital hepatic fibrosis a new syndrome. - J Pediatr., 108, 1986, №1, 61-65.
Babovic-Vuksanovic D., M. Patterson, W. Schwenk, J.F. O'Brien, J. Vockley, H. Freeze, D. Mehta, V. Michels. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. - J. Pediat., 135, 1999, № 6, 775-781.
De Koning T., P. Nikkels, L. Dorland, J. Bekhof, J. de Schrijver, J. van Hattum, O. van Diggelen, M. Duran, R. Berger and B. Poll-The. Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency. - Virchows Arch., 437, 2000, № 1, 101-105.
De Lonlay P., N. Seta. The clinical spectrum of phosphomannoseisomerase deficiency, with an evaluation of mannose treatment of CDG-Ib. - Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1792, 2009, № 9, 841-843.
Niehues R., M. Hasilik. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. - MMW Fortschr Med., 142, 2000, Suppl. 3, 171-2.
Harms H., K. Zimmer, K. Kurnik, R .Bertele-Harms, S. Weidinger, K. Reiter. Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. - Acta Paediatr., 91, 2002, №10, 1065-72.
De Lonlay P., M. Cuer, S. Vuillaumier-Barrot, G. Beaune, P. Castelnau, M. Kretz, G. Durand, J-M. Saudubray, N. Seta. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: a new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. - J Pediat., 135, 1999, № 3, 379-383.
Penel-Capelle D., D. Dobbelaere, J. Jaeken, A. Klein, M. Cartigny, J. Weill. Congenital disorder of glycosylation 1b(CDG-Ib)without gastrointestinal symptoms. - J Inherit Metab Dis., 26, 2003, 83-5.
Радева Б. Диагноза на острата метаболитна чернодробна недостатъчност. - GP News, 2005, №1, 26-27.
Jaeken J., H. van Eick, C. van der Heul, L. Corbeel, R. Eeckels, E. Eggermont. Sialic acid deficient serum and cerebrospinal fluid transferrin in a newly recognized syndrome. - Clin Chim Acta, 144, 1984, № 2-3, 245–247.
Westermeier R. Isoelectrofocusing. - In: Electrophoresis in practice (A guide to methods and applications of DNA and protein separations. Fourth revised and enlarged Edition. Weinheim, Wiley-VCH-Verlag GmbH &CoKGaA, 2008, ISBN 3-527-31181-5, 51-64.
van Geet C., J. Jaeken, K. Freson, T. Lenaerts, J. Arnout, J. Vermylen, M. Hoylaerts. Congenital disorders of glycosylation Ia and IIa are associated with different prime hemostatic complications. - J Inherit Dis., 24, 2001, №4, 477-492.
Edwards M., F. Mc Kenzie, S. O`Callagan, D. Somerset, P. Woodford, J. Spilsbury, M. Fietz, J. Fletcher. Prenatal diagnosis of congenital disorder of glycosylation type Ia by cordocentesis and transferrin isoelectrofocusing of serum of a 27 week fetus with non immune hydrops. – Prenat Diagn., 26, 2006, № 10, 985-988.
Carchon H., C. Ndosimao, S. van Aerschot, J. Jaeken. Use of serum on Guthrie cards in screening for CDG. – Clin Chem., 52, 2006, № 4, 774-775.
Clayton P., B. Winchester, E. Di Tamazo, G. Keir G, Rodeck K. Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in fetus. - Lancet , 341, 1993, № 8850, 956.
Dupre T., M. Cuer, S. Barrot, A. Barnier, V. Cormier-Daire, A. Munnich, G. Durand, N. Seta. Congenital Disorder of Glycosylation Ia with Deficient Phosphomannomutase Activity but Normal Plasma Glycoprotein Pattern. - Clinical chemistry, 47, 2001, № 1, 132-134.
Hahn S., S. Minnich, J. O`Brien. Stabilization of hypoglycosylation in a patient with CDG type Ia. - J Inherit Metab Dis. , 29, 2006, № 1, 235-237.
Stibler H., F. Skovby. Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. -Pediatr Neurol., 11, 1994, №1, 71.
Fletcher J., G. Matthijs, J. Jaeken, E. Van Schaftingen, P. Nelson. Carbohydrate–deficient glycoprotein syndrome: beyond the screen. – J Inherit Metab Dis., 23, 2000, №4, 396-98.
Aebi M., T. Hennet. Congenital disorders of glycosylation: genetic model systems lead the way. -Trends Cell Biol., 11, 2001, № 3, 136-41.
Briones P., M. Vilaseca, M. Garcia-Silva, M. Pineda, J. Colomer, I. Ferrer, J. Artigas, J. Jaeken, A. Chabas. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. – Eur J Paediatr Neurol., 5, 2001, № 3, 127-131.
Brum J., I. Rizzo, D. Mello, E. Carlos. Congenital disorders of glycosylation type Ia: a non progressive encephalopathy associated with multisystemic involvement. – Arq Neuro-Psiquiatr., 66, 2008, № 3, 545-548.
Drouin-Garraud V., M. Belgrand, S. Grunewald, N. Seta, J. Dacher, A. Henocq, G. Matthijs, V. Cormier-Daire, T. Frebourg, P. Saugier-Veber. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. - Am J Med Genet, 101, 2001, № 1, 46-9.
Marklova E., Z. Albahri. Screening and diagnosis of congenital disorders of glycosylation. - Clin Chim Acta., 385, 2007, № 1-2, 6-20.
Rimela-Le-Huu A., H. Henry, I. Kern, S. Hanquinet, S. Roulet-Perez, E. Neuman, A. Supertifurga, C. Bonate, D. Baahausen. Congenital disorder of glycosylation (CDG-Id) and molecular characterization of a new patient.- J Inherit Metab Dis., 2008, DOI-10.1007/s10545-008-0959-x.
Schoffer K., J. O’Sullivan, J. McGill. Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult. - Movement Disorders, 21, 2006, № 6 869–72.
Marquardt T., C. Denecke. Congenital disorders of glycosylation review of their molecular bases clinical presentations and specific therapy. - Eur J Pediatr., 162, 2003, № 6, 359-79.
Mills P., K. Mills, N. Mian, B. Winchester, P. Clayton. Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx. – J Inherit Metab Dis., 26, 2003, № 2-3, 119-34.
Sanz-Nebot V., P. Gonzalez, I. Toro, A. Ribes, J. Barbosa. Characterization of human transferrin glycoforms by capillary electrophoresis and electrospray ionization mass spectrometry. - J Chromatogr B., 798, 2003, № 1, 1-7.
Grubenmann C., C. Frank, S. Kjaergaard, E. Berger, M. Aebi, T. Hennet. ALG12 mannosyltransferase defect in congenital disorder or glycosylation type Ig. - Hum Mol Genet., 11, 2002, № 19, 2331-2339.
Butler M., D. Quelhas, A. Critchley, H. Carchon, H. Hebestreit, R. Hibbert, L. Vilarinho, E. Teles, G. Matthijs, E. Schollen, P. Argibay, D. Harvey, R. Dwek, J. Jaeken and P. Rudd. 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, 13, 2003, № 9, 601-622.
Körner C., L. Lehle, K. von Figura. Abnormal synthesis of mannose-1-phosphate derived carbohydrates in carbohydrate deficient glycoprotein syndrome type 1 fibroblasts with phosphomannomutase deficiency. - Glycobiology, 8, 1998, №2, 165-171.
Marklova E., Z. Albahri. Transferrin D protein variants in the diagnosis of congenital disorders of glycosylation (CDG). - J Clinical Lab Anal., 23, 2009, № 2, 77-81.
Charlwood J., P. Clayton, G. Keir, N. Mian, E.Young, B. Winchester. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling. - Prenat Diagn., 18, 1998, № 7, 693-9.
van Schaftingen E., J. Jaeken. Phosphomannomutase deficiency is a cause of Carbohydrate deficient glycoprotein syndrome type I. - FEBS Lett., 377, 1995, № 3, 318-320.
Lubke T., T. Marquardt, A. Etzioni, E. Hartmann, K. von Figura, C. Korner. Complementation cloning identifies CDG-IIc, a new type of CDG –as a GDP- fucose transporter deficiency. – Nat Genet., 28, 2001, №1, 73-6.
Foulquier F., E. Vasile, E. Schollen, N. Callewaert, T. Raemaekers, D. Quelhas, J. Jaeken, P. Mills, P, B. Winchester, M. Krieger, W. Annaert, G. Matthijs. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.- Proc Natl Acad Sci. USA , 103, 2006, №10, 3764-3769.
Zeevaert R., F. Foulquier, B. Dimitrov, E. Reynders, R. Van Damme-Lombaerts, E. Simeonov, W. Annaert, G. Matthijs, J. Jaeken. Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. - Hum Molec Genet., 18, 2009, № 3, 517-524.
Wu X., R. Steet, O. Bohorov, J. Bakker, J. Newell, M. Krieger, L. Spaapen, S. Kornfeld, H. Freeze. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. - Nature Med., 10, 2004, №5, 518-523.
Foulquier F., D. Ungar, E. Reynders, R. Zeevaert, R, P. Mills, M. Garcia-Silva, P. Briones, B. Winchester, W. Morelle, M. Krieger, W. Annaert, G. Matthijs. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the COG1-COG8 interaction in COG complex formation. - Hum Molec Genet., 16, 2007, № 7, 717-730.
Reynerds E., F. Fouquier, E . Teles, D. Quelhas, W. Morelle, C. Rabouille, W. Annaert, G. Matthijs. Golgi function and dysfunction in the first COG4-deficient CDG type II patient.-Hum Mol Genet, 18, 2009, №17, 3244-3256.
Panneerselvam K., H. Freeze. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. - J Clin Invest., 97, 1996, №6, 1478–87.
Alton G., S. Kjaergaard, J. Etchinson, F. Skovby, H. Freeze. Oral ingestion of mannose elevated blood mannose levels: A first step toward a potential thearapy for Carbohydrate – deficient glycoprotein syndrome type I.- Biochemical and molecular Medicine, 60, 1997, № 2, 127-133.
Etchison J., H. Freeze . Enzymatic assay of D-mannose in serum. - Clin Chem., 43, 1997, №3, 533-538.
Kjaergaard S. Congenital disorders of glycosylation type Ia and Ib/genetic, biochemical and clinical studies. - Danish Medical Bulletin, 51, 2004, №4, 350-363.
Mayatepek E., D. Kohlmüller. Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency. - Eur J Pediatr., 157, 1998, № 7, 605-6.
Hardre R., A. Khaled, A. Willemetz, T. Dupre, S. Moore, C. Gravier-Pelletier, Y. Le Merrer. Mono, di and tri-mannopyranosyl phosphates as mannose-1-prodrugs for potential CDG-Ia therapy. - Bioorg Med Chem Lett., 17, 2007, №1, 152-155.
Eklund E., H. Freeze. The congenital disorders of glycosylation: a multifaceted group of syndromes. – NeuroRx., 3, 2006, № 2, 254-263.
Mention K., F. Lacaille, V. Valayanopoulos, S. Romano, A Kuster, M. Cretz, H. Zaidan, L. Galmiche, F. Jaubert, Y. Keyser, N. Seta, P. de Lonlay. Development of liver disease despite mannose treatment in 2 patients with congenital disorders of glycosylation type Ib. – Mol Genet Metab., 93, 2008, №1, 40-43.
Liem Y., L. Bode, H. Freeze, F. Leebeek, A. Zandbergen, J. Paul-Wilson. Using heparine therapy to reserve protein–losing enteropathy in a patient with CDG-Ib. - Nat Clin Pract Gastroenterol Hepatol., 5, 2008, № 4, 220-224.
Marquardt T., H. Freeze. Congenital disorders of glycosylation: glycosylation defect in man and biological models for their study . - Biol Chem., 382, 2001, №2, 161-77.
Freeze H. Genetic defects in the human glycome . - Nat Rev Genet., 7, 2006, №7, 537-51.
Jaeken J., G. Matthijs, H. Carchon, E. Van Schaftingen. Defects of N-glycan synthesis. -In: Metabolic and molecular bases of inherited disease. 8 ed. C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, B. Childs, K. Kinzler, B. Vogelstein. (Ed.), New York, McGraw-Hill, 2001, 1601-21.
Callewaert N., E. Schollen, A. Vanhecke, J. Jaeken, G. Matthijs, R. Contreras. Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. - Glycobiology, 13, 2003, № 5, 367-75.
Schollen E. S. Kjaergaard, T. Martinsson, S Vuillaumier-Barrot, M. Dunoe, L. Keldermans, N Seta, G Matthijs. Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion. - J Med Genet., 41, 2004b, № 11, 877-880.
Schollen E., K. Martens, E. Geuzens, G. Matthijs. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). - Eur J Hum Genet., 10, 2002, № 10, 643-8.
Matthijs G., E. Schollen, C. Bjursell, A. Erlandson, H. Freeze, F. Imtiaz, S. Kjaergaard, T. Martinsson, M. Schwartz, N. Seta, S. Vuillaumier-Barrot, V. Westphal, B. Winchester. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). -Hum Mutat., 16, 2000, №5, 386–94.
Charlwood J., P. Clayton, G. Keir, N. Mian, E.Young, B. Winchester. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling. - Prenat Diagn., 18, 1998, № 7, 693-9.
Nogueira C., D. Quelhas, L.Vilarinho. Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card. - Mol Genet Metab., 87, 2006, №4, 379.
Schmale G., Е. Conrad, W. Rashkind. The natural history of hereditary multiple exostoses. - J Bone Joint Surg Am., 76, 1994, № 7, 9866-92.
Schollen E., S. Kjaergaard, E. Legius, M. Schwartz, G.Matthijs. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). - Eur J Hum Genet., 8, 2000, № 5, 367-71.
Published
2016-06-15
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Станчева-Иванова М. Вродени дефекти на гликозилиране. Редки болести и лекарства сираци [Internet]. 2016Jun.15 [cited 2024Apr.20];7(2):15-. Available from: http://journal.raredis.org/index.php/RBLS/article/view/52
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