Trastornos congénitos de la glucosilación de las glucoproteínas séricas

Jaeken, 2007, Congenital disorders of glycosylation: a rapidly expanding disease family, Annu. Rev. Genomics Hum. Genet., 8, 261, 10.1146/annurev.genom.8.080706.092327 Kornfeld, 1998, Diseases of abnormal protein glycosylation: an emerging area, J. Clin. Invest., 101, 1293, 10.1172/JCI3140 Dupre, 2004, Inherited disorders of protein glycosylation, Med. Sci. (Paris), 20, 331 Freeze, 2006, Genetic defects in the human glycome, Nat. Rev. Genet., 7, 537, 10.1038/nrg1894 Varki, 1993, Biological roles of oligosaccharides: all of the theories are correct, Glycobiology, 3, 97, 10.1093/glycob/3.2.97 Wopereis, 2006, Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review, Clin. Chem., 52, 574, 10.1373/clinchem.2005.063040 Muntoni, 2004, The congenital muscular dystrophies in 2004: a century of exciting progress, Neuromuscul. Disord., 14, 635, 10.1016/j.nmd.2004.06.009 Briones, 2001, Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease, Eur. J. Paediatr. Neurol., 5, 127, 10.1053/ejpn.2001.0483 de Lonlay, 2001, A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases, J. Med. Genet., 38, 14, 10.1136/jmg.38.1.14 Petersen, 1993, Early manifestations of the carbohydrate-deficient glycoprotein syndrome, J. Pediatr., 122, 66, 10.1016/S0022-3476(05)83488-2 Jaeken, 1993, The carbohydrate-deficient glycoprotein syndromes: an overview, J. Inherit. Metab. Dis., 16, 813, 10.1007/BF00714272 Van Geet, 2001, Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications, J. Inherit. Metab. Dis., 24, 477, 10.1023/A:1010581613821 Arnoux, 2008, Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia, Mol. Genet. Metab., 93, 444, 10.1016/j.ymgme.2007.11.006 Pavone, 1996, Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I, J. Neurol., 243, 700, 10.1007/BF00873975 Horslen, 1991, Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome, Arch. Dis. Child., 66, 1027, 10.1136/adc.66.9.1027 Andreasson, 1991, Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome, Am. J. Ophthalmol., 112, 83, 10.1016/S0002-9394(14)76218-X Stibler, 1994, Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease, J. Neurol. Neurosurg. Psychiatry, 57, 552, 10.1136/jnnp.57.5.552 Vabres, 1998, Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome, Ann. Dermatol. Venereol., 125, 715 Garel, 1998, Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex, Skeletal Radiol., 27, 43, 10.1007/s002560050335 Barone, 2002, Assessment of skeletal status in patients with congenital disorder of glycosylation type IA, Int. J. Tissue React., 24, 23 Kristiansson, 1995, Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome, Acta Paediatr., 84, 655, 10.1111/j.1651-2227.1995.tb13720.x Kristiansson, 1998, Intestinal, pancreatic and hepatic involvement in carbohydrate-deficient glycoprotein syndrome type I, J. Pediatr. Gastroenterol. Nutr., 27, 23, 10.1097/00005176-199807000-00005 Damen, 2004, Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic, J. Pediatr. Gastroenterol. Nutr., 38, 282, 10.1097/00005176-200403000-00010 Marquardt, 2002, Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia, Eur. J. Pediatr., 161, 524, 10.1007/s00431-002-1029-2 Hertz-Pannier, 2006, Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes, Pediatr. Radiol., 36, 108, 10.1007/s00247-005-0001-5 Niehues, 1998, Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy, J. Clin. Invest., 101, 1414, 10.1172/JCI2350 de Lonlay, 1999, Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose, J. Pediatr., 135, 379, 10.1016/S0022-3476(99)70139-3 de Koning, 1998, A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency, Biochem. Biophys. Res. Commun., 245, 38, 10.1006/bbrc.1998.8385 Korner, 1998, Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase, Proc. Natl. Acad. Sci. USA, 95, 13200, 10.1073/pnas.95.22.13200 Stibler, 1996, Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I, Blood Coagul. Fibrinolysis, 7, 118, 10.1097/00001721-199603000-00003 Wada, 1992, Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome, Biochem. Biophys. Res. Commun., 189, 832, 10.1016/0006-291X(92)92278-6 Van Schaftingen, 1995, Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I, FEBS Lett., 377, 318, 10.1016/0014-5793(95)01357-1 Matthijs, 2000, Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia), Hum. Mutat., 16, 386, 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y Jaeken, 2001, Congenital disorders of glycosylation: the rapidly growing tip of the iceberg, Curr. Opin. Neurol., 14, 811, 10.1097/00019052-200112000-00021 Grunewald, 2007, Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders, Early Hum. Dev., 83, 825, 10.1016/j.earlhumdev.2007.09.016 Mention, 2008, Development of liver disease despite mannose treatment in two patients with CDG-Ib, Mol. Genet. Metab., 93, 40, 10.1016/j.ymgme.2007.08.126 http://www.euroglycanet.org/. Freeze, 2007, Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond, Curr. Mol. Med., 7, 389, 10.2174/156652407780831548 Jaeken, 2007, Congenital disorders of glycosylation: a rapidly expanding disease family, Annu. Rev. Genomics Hum. Genet., 8, 261, 10.1146/annurev.genom.8.080706.092327