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Items: 1 to 20 of 106

1.

Thrombotic complications in patients with PMM2-CDG.

Linssen M, Mohamed M, Wevers RA, Lefeber DJ, Morava E.

Mol Genet Metab. 2013 May;109(1):107-11. doi: 10.1016/j.ymgme.2013.02.006.

PMID:
23499581
2.

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.

Arnoux JB, Boddaert N, Valayannopoulos V, Romano S, Bahi-Buisson N, Desguerre I, de Keyzer Y, Munnich A, Brunelle F, Seta N, Dautzenberg MD, de Lonlay P.

Mol Genet Metab. 2008 Apr;93(4):444-9.

PMID:
18093857
3.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D.

Orphanet J Rare Dis. 2014 Dec 11;9:207. doi: 10.1186/s13023-014-0207-4.

4.

Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.

Stefanits H, Konstantopoulou V, Kuess M, Milenkovic I, Matula C.

J Neurosurg Pediatr. 2014 Nov;14(5):546-9. doi: 10.3171/2014.7.PEDS14102.

PMID:
25192236
5.

Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.

de la Morena-Barrio ME, Di Michele M, Lozano ML, Rivera J, Pérez-Dueñas B, Altisent C, Sevivas T, Vicente V, Jaeken J, Freson K, Corral J.

Thromb Res. 2014 Mar;133(3):412-7. doi: 10.1016/j.thromres.2013.12.024.

PMID:
24388574
6.

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

Thompson DA, Lyons RJ, Russell-Eggitt I, Liasis A, Jägle H, Grünewald S.

J Inherit Metab Dis. 2013 Nov;36(6):1039-47. doi: 10.1007/s10545-013-9594-2.

PMID:
23430200
7.

Recent advances in understanding clotting and evaluating patients with recurrent thrombosis.

Alving BM, Comp PC.

Am J Obstet Gynecol. 1992 Oct;167(4 Pt 2):1184-91. Review.

PMID:
1415444
8.

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

Footitt EJ, Karimova A, Burch M, Yayeh T, Dupré T, Vuillaumier-Barrot S, Chantret I, Moore SE, Seta N, Grunewald S.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S313-9. doi: 10.1007/s10545-009-1262-1. Review.

PMID:
19757145
9.

Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome.

Okamoto N, Wada Y, Kobayashi M, Otani K, Tagawa T, Futagi Y, Imayoshi Y, Hayashi A, Shimizu A, Kato Y.

J Inherit Metab Dis. 1993;16(2):435-40.

PMID:
8412004
10.

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.

Cline A, Gao N, Flanagan-Steet H, Sharma V, Rosa S, Sonon R, Azadi P, Sadler KC, Freeze HH, Lehrman MA, Steet R.

Mol Biol Cell. 2012 Nov;23(21):4175-87. doi: 10.1091/mbc.E12-05-0411.

11.

Abnormal fat distribution in PMM2-CDG.

Wolthuis DF, van Asbeck EV, Kozicz T, Morava E.

Mol Genet Metab. 2013 Nov;110(3):411-3. doi: 10.1016/j.ymgme.2013.08.017.

PMID:
24063868
12.

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Casado M, O'Callaghan MM, Montero R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R.

Cerebellum. 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y.

PMID:
22012410
13.

PMM2-CDG: phenotype and genotype in four affected family members.

Bortot B, Cosentini D, Faletra F, Biffi S, De Martino E, Carrozzi M, Severini GM.

Gene. 2013 Dec 1;531(2):506-9. doi: 10.1016/j.gene.2013.07.083.

PMID:
23988505
15.

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A.

J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7.

PMID:
25355454
16.

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

de la Morena-Barrio ME, Hernández-Caselles T, Corral J, García-López R, Martínez-Martínez I, Pérez-Dueñas B, Altisent C, Sevivas T, Kristensen SR, Guillén-Navarro E, Miñano A, Vicente V, Jaeken J, Lozano ML.

Orphanet J Rare Dis. 2013 Oct 20;8:170. doi: 10.1186/1750-1172-8-170.

17.

Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients.

Ding Q, Wang M, Xu G, Ye X, Xi X, Yu T, Wang X, Wang H.

Thromb Res. 2013 Sep;132(3):367-73. doi: 10.1016/j.thromres.2013.07.013.

PMID:
23932013
18.

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B.

J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2.

PMID:
21541725
19.

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

Kapusta L, Zucker N, Frenckel G, Medalion B, Ben Gal T, Birk E, Mandel H, Nasser N, Morgenstern S, Zuckermann A, Lefeber DJ, de Brouwer A, Wevers RA, Lorber A, Morava E.

Heart Fail Rev. 2013 Mar;18(2):187-96. doi: 10.1007/s10741-012-9302-6.

20.

Expanding the Spectrum of PMM2-CDG Phenotype.

Vuillaumier-Barrot S, Isidor B, Dupré T, Le Bizec C, David A, Seta N.

JIMD Rep. 2012;5:123-5. doi: 10.1007/8904_2011_114.

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