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Results: 1 to 20 of 151

Similar articles for PubMed (Select 19165618)

1.

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
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.

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
4.

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
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.

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA.

J Med Genet. 2007 Apr;44(4):277-80. Epub 2006 Dec 8.

7.

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
8.

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
9.

Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.

Sharma V, Ichikawa M, He P, Scott DA, Bravo Y, Dahl R, Ng BG, Cosford ND, Freeze HH.

J Biol Chem. 2011 Nov 11;286(45):39431-8. doi: 10.1074/jbc.M111.285502. Epub 2011 Sep 26. Erratum in: J Biol Chem. 2011 Dec 16;286(50):43588. Scott, David A [added].

10.

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
11.

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L.

Ann Hum Genet. 2007 May;71(Pt 3):348-53. Epub 2006 Dec 12.

PMID:
17166182
12.

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
13.

A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity.

Charlwood J, Clayton P, Johnson A, Keir G, Mian N, Winchester B.

J Inherit Metab Dis. 1997 Nov;20(6):817-26.

PMID:
9427152
14.

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
15.

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
16.

Congenital disorders of glycosylation with neonatal presentation.

Resende C, Carvalho C, Alegria A, Oliveira D, Quelhas D, Bandeira A, Proença E.

BMJ Case Rep. 2014 Apr 16;2014. pii: bcr2013010037. doi: 10.1136/bcr-2013-010037.

PMID:
24739649
17.

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
18.

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
19.

Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.

Rudaks LI, Andersen C, Khong TY, Kelly A, Fietz M, Barnett CP.

Pediatr Cardiol. 2012 Jun;33(5):827-30. doi: 10.1007/s00246-012-0214-y. Epub 2012 Feb 29.

PMID:
22374380
20.

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
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