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Items: 1 to 20 of 80

1.

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.

2.

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. Epub 2014 Oct 30.

PMID:
25355454
3.

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Zühlsdorf A, Park JH, Wada Y, Rust S, Reunert J, DuChesne I, Grüneberg M, Marquardt T.

Clin Biochem. 2015 Jan;48(1-2):11-3. doi: 10.1016/j.clinbiochem.2014.09.022. Epub 2014 Oct 8.

PMID:
25305627
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. Epub 2014 Sep 5.

PMID:
25192236
5.

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Park JH, Zühlsdorf A, Wada Y, Roll C, Rust S, Du Chesne I, Grüneberg M, Reunert J, Marquardt T.

Clin Chim Acta. 2014 Sep 25;436:135-9. doi: 10.1016/j.cca.2014.05.011. Epub 2014 May 26. Erratum in: Clin Chim Acta. 2015 Jul 20;447:115-7.

PMID:
24875750
6.

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.

Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E.

Expert Rev Mol Diagn. 2014 Mar;14(2):217-24. doi: 10.1586/14737159.2014.890052. Epub 2014 Feb 13. Review. Erratum in: Expert Rev Mol Diagn. 2014 Apr;14(3):401. Morava-Kozicz, Eva [corrected to Morava, Eva].

PMID:
24524732
7.

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

Jaeken J, Lefeber D, Matthijs G.

Eur J Hum Genet. 2014 Aug;22(8). doi: 10.1038/ejhg.2013.298. Epub 2014 Jan 15. No abstract available.

8.

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. Epub 2013 Aug 26.

PMID:
23988505
9.

Lymphatic edema in congenital disorders of glycosylation.

Verstegen RH, Theodore M, van de Klerk H, Morava E.

JIMD Rep. 2012;4:113-6. doi: 10.1007/8904_2011_82. Epub 2011 Oct 20.

10.

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

Pérez B, Briones P, Quelhas D, Artuch R, Vega AI, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M, Pérez-Cerdá C.

JIMD Rep. 2011;1:117-23. doi: 10.1007/8904_2011_26. Epub 2011 Jun 22.

11.

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. Epub 2013 Feb 22.

PMID:
23430200
12.

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Funke S, Gardeitchik T, Kouwenberg D, Mohamed M, Wortmann SB, Korsch E, Adamowicz M, Al-Gazali L, Wevers RA, Horvath A, Lefeber DJ, Morava E.

Am J Med Genet A. 2013 Mar;161A(3):578-84. doi: 10.1002/ajmg.a.35702. Epub 2013 Feb 7. Erratum in: Am J Med Genet A. 2014 Jun;164A(6):1618.

PMID:
23401092
13.

Thyroid function in PMM2-CDG: diagnostic approach and proposed management.

Mohamed M, Theodore M, Claahsen-van der Grinten H, van Herwaarden AE, Huijben K, van Dongen L, Kouwenberg D, Lefeber DJ, Wevers RA, Morava E.

Mol Genet Metab. 2012 Apr;105(4):681-3. doi: 10.1016/j.ymgme.2012.02.001. Epub 2012 Feb 13.

PMID:
22386715
14.

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Léticée N, Bessières-Grattagliano B, Dupré T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attié-Bitach T.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):253-7. doi: 10.1016/j.ymgme.2010.06.009. Epub 2010 Jun 22. Review.

PMID:
20638314
15.

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Haeuptle MA, Hennet T.

Hum Mutat. 2009 Dec;30(12):1628-41. doi: 10.1002/humu.21126. Review.

PMID:
19862844
16.

CDG nomenclature: time for a change!

Jaeken J, Hennet T, Matthijs G, Freeze HH.

Biochim Biophys Acta. 2009 Sep;1792(9):825-6. doi: 10.1016/j.bbadis.2009.08.005. No abstract available.

17.

Congenital disorders of glycosylation: a rare cause of nephrotic syndrome.

Sinha MD, Horsfield C, Komaromy D, Booth CJ, Champion MP.

Nephrol Dial Transplant. 2009 Aug;24(8):2591-4. doi: 10.1093/ndt/gfp226. Epub 2009 May 27.

18.

Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K, Fietz M, Clayton P, Christodoulou J.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S241-51. doi: 10.1007/s10545-009-1180-2. Epub 2009 Apr 27.

PMID:
19396570
19.

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

Romano S, Bajolle F, Valayannopoulos V, Lyonnet S, Colomb V, de Baracé C, Vouhe P, Pouard P, Vuillaumier-Barrot S, Dupré T, de Keyzer Y, Sidi D, Seta N, Bonnet D, de Lonlay P.

J Med Genet. 2009 Apr;46(4):287-8. doi: 10.1136/jmg.2008.057620. No abstract available.

PMID:
19357119
20.

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

Grünewald S.

Biochim Biophys Acta. 2009 Sep;1792(9):827-34. doi: 10.1016/j.bbadis.2009.01.003. Epub 2009 Jan 14. Review.

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