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Items: 1 to 20 of 49

1.

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.

PMID:
11875054
2.

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G.

Hum Mutat. 2000 Sep;16(3):247-52. Review.

PMID:
10980531
3.

Balancing N-linked glycosylation to avoid disease.

Freeze HH, Westphal V.

Biochimie. 2001 Aug;83(8):791-9. Review.

PMID:
11530212
4.

[Molecular diagnosis of congenital disorders of glycosylation].

Vuillaumier-Barrot S.

Ann Biol Clin (Paris). 2005 Mar-Apr;63(2):135-43. Review. French.

5.

[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].

Sätilä H, Kuusela AL, Pietilä K, Niinikoski H, Keskinen P.

Duodecim. 2016;132(3):253-9. Review. Finnish.

PMID:
26951030
6.

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).

Krasnewich D, O'Brien K, Sparks S.

Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):302-6. Review.

PMID:
17639595
7.

[Congenital disorders of glycosylation].

Durand G, Dupré T, Vuillaumier-Barrot S, Seta N.

Ann Pharm Fr. 2003;61(5):330-9. Review. French.

PMID:
13130291
8.

The prenatal diagnosis of congenital disorders of glycosylation (CDG).

Matthijs G, Schollen E, Van Schaftingen E.

Prenat Diagn. 2004 Feb;24(2):114-6. Review. No abstract available.

PMID:
14974118
9.

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

Matthijs G, Schollen E, Heykants L, Grünewald S.

Mol Genet Metab. 1999 Oct;68(2):220-6. Review. No abstract available.

PMID:
10527672
10.
11.

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
12.

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

Carchon H, Van Schaftingen E, Matthijs G, Jaeken J.

Biochim Biophys Acta. 1999 Oct 8;1455(2-3):155-65. Review.

13.

Congenital disorders of glycosylation.

Jaeken J.

Handb Clin Neurol. 2013;113:1737-43. doi: 10.1016/B978-0-444-59565-2.00044-7. Review.

PMID:
23622397
14.

Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Barone R, Fiumara A, Jaeken J.

Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Review.

PMID:
25192513
15.

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.

Freeze HH.

Biochim Biophys Acta. 2009 Sep;1792(9):835-40. doi: 10.1016/j.bbadis.2009.01.004. Review.

16.

[Carbohydrate-deficient glycoprotein (CDG) syndrome (Jaeken syndrome)].

Ohno K.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):474-9. Review. Japanese. No abstract available.

PMID:
9645114
17.

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.

18.

Congenital disorders of glycosylation: a review.

Grunewald S, Matthijs G, Jaeken J.

Pediatr Res. 2002 Nov;52(5):618-24. Review.

PMID:
12409504
19.

Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation.

Cylwik B, Naklicki M, Chrostek L, Gruszewska E.

Acta Biochim Pol. 2013;60(2):151-61. Epub 2013 May 31. Review.

20.

Update and perspectives on congenital disorders of glycosylation.

Freeze HH.

Glycobiology. 2001 Dec;11(12):129R-143R. Review.

PMID:
11805072

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