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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2000 | 1 |
2004 | 3 |
2010 | 1 |
2016 | 1 |
2024 | 0 |
PubMed (cited) for id: 605907
6 results
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Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
Pediatr Int. 2016 Aug;58(8):785-8. doi: 10.1111/ped.12988. Epub 2016 Jun 21.
Pediatr Int. 2016.
PMID: 27325525
Free PMC article.
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.
Dupré T, et al.
J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2.
J Med Genet. 2010.
PMID: 20679665
Free article.
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Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T.
Kranz C, et al.
Am J Hum Genet. 2004 Mar;74(3):545-51. doi: 10.1086/382493. Epub 2004 Feb 17.
Am J Hum Genet. 2004.
PMID: 14973782
Free PMC article.
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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.
Schwarz M, et al.
Am J Hum Genet. 2004 Mar;74(3):472-81. doi: 10.1086/382492. Epub 2004 Feb 16.
Am J Hum Genet. 2004.
PMID: 14973778
Free PMC article.
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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.
Grubenmann CE, et al.
Hum Mol Genet. 2004 Mar 1;13(5):535-42. doi: 10.1093/hmg/ddh050. Epub 2004 Jan 6.
Hum Mol Genet. 2004.
PMID: 14709599
Free article.
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Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1.
Takahashi T, Honda R, Nishikawa Y.
Takahashi T, et al.
Glycobiology. 2000 Mar;10(3):321-7. doi: 10.1093/glycob/10.3.321.
Glycobiology. 2000.
PMID: 10704531
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