282 related articles for article (PubMed ID: 15148656)
1. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.
Frank CG; Grubenmann CE; Eyaid W; Berger EG; Aebi M; Hennet T
Am J Hum Genet; 2004 Jul; 75(1):146-50. PubMed ID: 15148656
[TBL] [Abstract][Full Text] [Related]
2. CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
Weinstein M; Schollen E; Matthijs G; Neupert C; Hennet T; Grubenmann CE; Frank CG; Aebi M; Clarke JT; Griffiths A; Seargeant L; Poplawski N
Am J Med Genet A; 2005 Jul; 136(2):194-7. PubMed ID: 15945070
[TBL] [Abstract][Full Text] [Related]
3. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
Imbach T; Schenk B; Schollen E; Burda P; Stutz A; Grunewald S; Bailie NM; King MD; Jaeken J; Matthijs G; Berger EG; Aebi M; Hennet T
J Clin Invest; 2000 Jan; 105(2):233-9. PubMed ID: 10642602
[TBL] [Abstract][Full Text] [Related]
4. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
Würde AE; Reunert J; Rust S; Hertzberg C; Haverkämper S; Nürnberg G; Nürnberg P; Lehle L; Rossi R; Marquardt T
Mol Genet Metab; 2012 Apr; 105(4):634-41. PubMed ID: 22304930
[TBL] [Abstract][Full Text] [Related]
5. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.
Grubenmann CE; Frank CG; Hülsmeier AJ; Schollen E; Matthijs G; Mayatepek E; Berger EG; Aebi M; Hennet T
Hum Mol Genet; 2004 Mar; 13(5):535-42. PubMed ID: 14709599
[TBL] [Abstract][Full Text] [Related]
6. Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Himmelreich N; Dimitrov B; Zielonka M; Hüllen A; Hoffmann GF; Juenger H; Müller H; Lorenz I; Busse B; Marschall C; Schlüter G; Thiel C
Mol Genet Metab; 2022 Aug; 136(4):274-281. PubMed ID: 35839600
[TBL] [Abstract][Full Text] [Related]
7. ALG1-CDG: a new case with early fatal outcome.
Rohlfing AK; Rust S; Reunert J; Tirre M; Du Chesne I; Wemhoff S; Meinhardt F; Hartmann H; Das AM; Marquardt T
Gene; 2014 Jan; 534(2):345-51. PubMed ID: 24157261
[TBL] [Abstract][Full Text] [Related]
8. ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
Grubenmann CE; Frank CG; Kjaergaard S; Berger EG; Aebi M; Hennet T
Hum Mol Genet; 2002 Sep; 11(19):2331-9. PubMed ID: 12217961
[TBL] [Abstract][Full Text] [Related]
9. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
Imbach T; Grünewald S; Schenk B; Burda P; Schollen E; Wevers RA; Jaeken J; de Klerk JB; Berger EG; Matthijs G; Aebi M; Hennet T
Hum Genet; 2000 May; 106(5):538-45. PubMed ID: 10914684
[TBL] [Abstract][Full Text] [Related]
10. Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
Chantret I; Dupré T; Delenda C; Bucher S; Dancourt J; Barnier A; Charollais A; Heron D; Bader-Meunier B; Danos O; Seta N; Durand G; Oriol R; Codogno P; Moore SE
J Biol Chem; 2002 Jul; 277(28):25815-22. PubMed ID: 11983712
[TBL] [Abstract][Full Text] [Related]
11. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Dupré T; Vuillaumier-Barrot S; Chantret I; Sadou Yayé H; Le Bizec C; Afenjar A; Altuzarra C; Barnérias C; Burglen L; de Lonlay P; Feillet F; Napuri S; Seta N; Moore SE
J Med Genet; 2010 Nov; 47(11):729-35. PubMed ID: 20679665
[TBL] [Abstract][Full Text] [Related]
12. Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.
Vleugels W; Keldermans L; Jaeken J; Butters TD; Michalski JC; Matthijs G; Foulquier F
Glycobiology; 2009 Aug; 19(8):910-7. PubMed ID: 19451548
[TBL] [Abstract][Full Text] [Related]
13. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Thiel C; Rind N; Popovici D; Hoffmann GF; Hanson K; Conway RL; Adamski CR; Butler E; Scanlon R; Lambert M; Apeshiotis N; Thiels C; Matthijs G; Körner C
Hum Mutat; 2012 Mar; 33(3):485-7. PubMed ID: 22213132
[TBL] [Abstract][Full Text] [Related]
14. CDG-Id in two siblings with partially different phenotypes.
Kranz C; Sun L; Eklund EA; Krasnewich D; Casey JR; Freeze HH
Am J Med Genet A; 2007 Jul; 143A(13):1414-20. PubMed ID: 17551933
[TBL] [Abstract][Full Text] [Related]
15. Stepwise assembly of the lipid-linked oligosaccharide in the endoplasmic reticulum of Saccharomyces cerevisiae: identification of the ALG9 gene encoding a putative mannosyl transferase.
Burda P; te Heesen S; Brachat A; Wach A; Düsterhöft A; Aebi M
Proc Natl Acad Sci U S A; 1996 Jul; 93(14):7160-5. PubMed ID: 8692962
[TBL] [Abstract][Full Text] [Related]
16. Congenital disorders of glycosylation: The Saudi experience.
Alsubhi S; Alhashem A; Faqeih E; Alfadhel M; Alfaifi A; Altuwaijri W; Alsahli S; Aldhalaan H; Alkuraya FS; Hundallah K; Mahmoud A; Alasmari A; Mutairi FA; Abduraouf H; AlRasheed L; Alshahwan S; Tabarki B
Am J Med Genet A; 2017 Oct; 173(10):2614-2621. PubMed ID: 28742265
[TBL] [Abstract][Full Text] [Related]
17. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R; Aiello C; Race V; Morava E; Foulquier F; Riemersma M; Passarelli C; Concolino D; Carella M; Santorelli F; Vleugels W; Mercuri E; Garozzo D; Sturiale L; Messina S; Jaeken J; Fiumara A; Wevers RA; Bertini E; Matthijs G; Lefeber DJ
Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
[TBL] [Abstract][Full Text] [Related]
18. A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Dancourt J; Vuillaumier-Barrot S; de Baulny HO; Sfaello I; Barnier A; le Bizec C; Dupre T; Durand G; Seta N; Moore SE
Pediatr Res; 2006 Jun; 59(6):835-9. PubMed ID: 16641202
[TBL] [Abstract][Full Text] [Related]
19. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.
Schwarz M; Thiel C; Lübbehusen J; Dorland B; de Koning T; von Figura K; Lehle L; Körner C
Am J Hum Genet; 2004 Mar; 74(3):472-81. PubMed ID: 14973778
[TBL] [Abstract][Full Text] [Related]
20. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.
Körner C; Knauer R; Stephani U; Marquardt T; Lehle L; von Figura K
EMBO J; 1999 Dec; 18(23):6816-22. PubMed ID: 10581255
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
