Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 270

1.

Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.

Coman D, McGill J, MacDonald R, Morris D, Klingberg S, Jaeken J, Appleton D.

J Clin Neurosci. 2007 Jul;14(7):668-72. Epub 2007 Apr 23.

PMID:
17451957
2.

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.

3.

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.

Erlandson A, Bjursell C, Stibler H, Kristiansson B, Wahlström J, Martinsson T.

Hum Genet. 2001 May;108(5):359-67.

PMID:
11409861
4.

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

Barone R, Sturiale L, Sofia V, Ignoto A, Fiumara A, Sorge G, Garozzo D, Zappia M.

Am J Med Genet A. 2008 Aug 15;146A(16):2103-8. doi: 10.1002/ajmg.a.32446.

PMID:
18629883
5.

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH.

Hum Mol Genet. 2002 Mar 1;11(5):599-604.

6.

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J.

J Inherit Metab Dis. 2007 Feb;30(1):107. Epub 2006 Dec 20.

PMID:
17186415
7.

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.

Aronica E, van Kempen AA, van der Heide M, Poll-The BT, van Slooten HJ, Troost D, Rozemuller-Kwakkel JM.

Acta Neuropathol. 2005 Apr;109(4):433-42. Epub 2005 Feb 16.

PMID:
15714316
8.

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
9.

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

Drouin-Garraud V, Belgrand M, Grünewald S, Seta N, Dacher JN, Hénocq A, Matthijs G, Cormier-Daire V, Frébourg T, Saugier-Veber P.

Am J Med Genet. 2001 Jun 1;101(1):46-9.

PMID:
11343337
10.

A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.

Tayebi N, Andrews DQ, Park JK, Orvisky E, McReynolds J, Sidransky E, Krasnewich DM.

Am J Med Genet. 2002 Mar 15;108(3):241-6.

PMID:
11891694
11.

Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.

Westphal V, Enns GM, McCracken MF, Freeze HH.

Mol Genet Metab. 2001 May;73(1):71-6.

PMID:
11350185
12.

CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.

Jamroz E, Adamek D, Paprocka J, Adamowicz M, Marszał E, Wevers RA.

J Child Neurol. 2009 Jan;24(1):13-8. doi: 10.1177/0883073808321041.

PMID:
19168813
13.

[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia].

Honzík T, Malonová E, Hansíková H, Rosipal R, Poupĕtová H, Martásek P, Zeman J.

Cas Lek Cesk. 2003;142(5):276-9. Czech.

PMID:
12920791
14.

Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.

Ono H, Sakura N, Yamashita K, Yuasa I, Ohno K.

Brain Dev. 2003 Oct;25(7):525-8. Erratum in: Brain Dev. 2004 Aug;26(5):347.

PMID:
13129599
15.

PMM2 intronic branch-site mutations in CDG-Ia.

Vuillaumier-Barrot S, Le Bizec C, De Lonlay P, Madinier-Chappat N, Barnier A, Dupré T, Durand G, Seta N.

Mol Genet Metab. 2006 Apr;87(4):337-40. Epub 2005 Dec 20.

PMID:
16376131
16.

Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings.

Wurm D, Hänsgen A, Kim YJ, Lindinger A, Baghai A, Gortner L.

Eur J Pediatr. 2007 Apr;166(4):377-8. Epub 2006 Aug 29. No abstract available.

PMID:
16941129
17.

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.

Vuillaumier-Barrot S, Hetet G, Barnier A, Dupré T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N.

J Med Genet. 2000 Aug;37(8):579-80.

18.

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sánchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G.

Mol Genet Metab. 2007 Apr;90(4):408-13. Epub 2007 Feb 16.

PMID:
17307006
19.
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
Items per page

Supplemental Content

Write to the Help Desk