266 related articles for article (PubMed ID: 14974118)
1. The prenatal diagnosis of congenital disorders of glycosylation (CDG).
Matthijs G; Schollen E; Van Schaftingen E
Prenat Diagn; 2004 Feb; 24(2):114-6. PubMed ID: 14974118
[No Abstract] [Full Text] [Related]
2. [Molecular diagnosis of congenital disorders of glycosylation].
Vuillaumier-Barrot S
Ann Biol Clin (Paris); 2005; 63(2):135-43. PubMed ID: 15771971
[TBL] [Abstract][Full Text] [Related]
3. Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts.
Sala G; Dupré T; Seta N; Codogno P; Ghidoni R
Pediatr Res; 2002 Nov; 52(5):645-51. PubMed ID: 12409508
[TBL] [Abstract][Full Text] [Related]
4. Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops.
Edwards M; McKenzie F; O'callaghan S; Somerset D; Woodford P; Spilsbury J; Fietz M; Fletcher J
Prenat Diagn; 2006 Oct; 26(10):985-8. PubMed ID: 16915591
[TBL] [Abstract][Full Text] [Related]
5. Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies.
Kjaergaard S
Dan Med Bull; 2004 Nov; 51(4):350-63. PubMed ID: 16009061
[No Abstract] [Full Text] [Related]
6. 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. PubMed ID: 23730680
[TBL] [Abstract][Full Text] [Related]
7. [Disturbances in aminoglycan synthesis].
Jaeken J
Arch Pediatr; 1999; 6 Suppl 2():203s-205s. PubMed ID: 10370481
[No Abstract] [Full Text] [Related]
8. [Congenital disorders of glycosylation].
Durand G; Dupré T; Vuillaumier-Barrot S; Seta N
Ann Pharm Fr; 2003; 61(5):330-9. PubMed ID: 13130291
[TBL] [Abstract][Full Text] [Related]
9. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.
de Koning TJ; Dorland L; van Diggelen OP; Boonman AM; de Jong GJ; van Noort WL; De Schryver J; Duran M; van den Berg IE; Gerwig GJ; Berger R; Poll-The BT
Biochem Biophys Res Commun; 1998 Apr; 245(1):38-42. PubMed ID: 9535779
[TBL] [Abstract][Full Text] [Related]
10. Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
Schollen E; Kjaergaard S; Martinsson T; Vuillaumier-Barrot S; Dunoe M; Keldermans L; Seta N; Matthijs G
J Med Genet; 2004 Nov; 41(11):877-80. PubMed ID: 15520415
[No Abstract] [Full Text] [Related]
11. Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).
Jackson M; Clayton P; Grunewald S; Keir G; Mills K; Mills P; Winchester B; Worthington V; Young E
J Inherit Metab Dis; 2005; 28(6):1197-8. PubMed ID: 16435229
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 10980531
[TBL] [Abstract][Full Text] [Related]
13. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Schollen E; Martens K; Geuzens E; Matthijs G
Eur J Hum Genet; 2002 Oct; 10(10):643-8. PubMed ID: 12357336
[TBL] [Abstract][Full Text] [Related]
14. Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
Eklund EA; Sun L; Yang SP; Pasion RM; Thorland EC; Freeze HH
Biochem Biophys Res Commun; 2006 Jan; 339(3):755-60. PubMed ID: 16321363
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 17166182
[TBL] [Abstract][Full Text] [Related]
16. Congenital disorders of glycosylation syndromes.
Pascual-Castroviejo I
Dev Med Child Neurol; 2002 May; 44(5):357-8. PubMed ID: 12033725
[No Abstract] [Full Text] [Related]
17. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
Schollen E; Frank CG; Keldermans L; Reyntjens R; Grubenmann CE; Clayton PT; Winchester BG; Smeitink J; Wevers RA; Aebi M; Hennet T; Matthijs G
J Med Genet; 2004 Jul; 41(7):550-6. PubMed ID: 15235028
[No Abstract] [Full Text] [Related]
18. Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!
Jaeken J
J Inherit Metab Dis; 2003; 26(2-3):99-118. PubMed ID: 12889654
[TBL] [Abstract][Full Text] [Related]
19. Increased brain lactate during stroke-like episode in a patient with congenital disorder of glycosylation type Ia.
van Baalen A; Stephani U; Rohr A
Brain Dev; 2009 Feb; 31(2):183. PubMed ID: 18835116
[No Abstract] [Full Text] [Related]
20. 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. PubMed ID: 17186415
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]