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Items: 1 to 20 of 214

1.

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
2.

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. Epub 2011 May 4.

PMID:
21541725
3.

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G.

Am J Hum Genet. 2001 Feb;68(2):347-54. Epub 2001 Jan 11.

4.

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L.

J Pediatr. 2002 Nov;141(5):695-700.

PMID:
12410200
5.

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH.

Genet Med. 2001 Nov-Dec;3(6):393-8.

PMID:
11715002
6.

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

Pérez-Dueñas B, García-Cazorla A, Pineda M, Poo P, Campistol J, Cusí V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch R, Vilaseca MA.

Eur J Paediatr Neurol. 2009 Sep;13(5):444-51. doi: 10.1016/j.ejpn.2008.09.002. Epub 2008 Oct 22.

PMID:
18948042
7.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B.

Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y.

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.
10.

[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].

Ren C, Fang F, Huang Y, Cheng H, Dai L.

Zhonghua Er Ke Za Zhi. 2015 Dec;53(12):938-42. Chinese.

PMID:
26887550
11.

Congenital disorder of glycosylation type Ic: report of a Japanese case.

Ichikawa K, Kadoya M, Wada Y, Okamoto N.

Brain Dev. 2013 Jun;35(6):586-9. doi: 10.1016/j.braindev.2012.09.003. Epub 2012 Oct 6.

PMID:
23044053
12.

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.

13.

Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation.

Thong MK, Fietz M, Nicholls C, Lee MH, Asma O.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S41-4. doi: 10.1007/s10545-009-1031-1. Epub 2009 Jan 26.

PMID:
19165618
14.

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.

Vermeer S, Kremer HP, Leijten QH, Scheffer H, Matthijs G, Wevers RA, Knoers NA, Morava E, Lefeber DJ.

J Neurol. 2007 Oct;254(10):1356-8. Epub 2007 Aug 15.

PMID:
17694350
15.

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Yuste-Checa P, Gámez A, Brasil S, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B.

Hum Mutat. 2015 Sep;36(9):851-60. doi: 10.1002/humu.22817. Epub 2015 Jul 23.

PMID:
26014514
16.

A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.

Assmann B, Hackler R, Peters V, Schaefer JR, Arndt T, Mayatepek E, Jaeken J, Hoffmann GF.

Neuropediatrics. 2001 Dec;32(6):313-8.

PMID:
11870587
17.

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.

Helander A, Stödberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G.

Mol Genet Metab. 2013 Nov;110(3):342-4. doi: 10.1016/j.ymgme.2013.07.002. Epub 2013 Jul 10.

PMID:
23890587
18.

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T.

Eur J Pediatr. 2003 Oct;162(10):710-3. Epub 2003 Aug 2.

PMID:
12905014
19.

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA.

Pediatrics. 2012 Oct;130(4):e1034-9. doi: 10.1542/peds.2011-2711. Epub 2012 Sep 10.

20.

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.

Briones P, Vilaseca MA, García-Silva MT, Pineda M, Colomer J, Ferrer I, Artigas J, Jaeken J, Chabás A.

Eur J Paediatr Neurol. 2001;5(3):127-31.

PMID:
11589167

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