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Items: 3

1.
CONGENITAL NEPHROTIC SYNDROME IN AN INFANT WITH ALG1-CONGENITAL DISORDER OF GLYCOSYLATION
L.A. Harshman, B.G. Ng, H.H. Freeze, P. Trapane, A. Dolzeal, P.D. Brophy, J.E. Brumbaugh
Pediatr Int. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Pediatr Int. 2016 Aug; 58(8): 785–788. Published online 2016 Jun 21. doi: 10.1111/ped.12988
PMCID:
PMC4996748
AbstractArticlePDF–492K
2.
Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I
Christian Kranz, Jonas Denecke, Ludwig Lehle, Kristina Sohlbach, Stefanie Jeske, Friedhelm Meinhardt, Rainer Rossi, Sonja Gudowius, Thorsten Marquardt
Am J Hum Genet. 2004 Mar; 74(3): 545–551. Published online 2004 Feb 17. doi: 10.1086/382493
PMCID:
PMC1182267
AbstractArticlePDF–209K
3.
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
Markus Schwarz, Christian Thiel, Jürgen Lübbehusen, Bert Dorland, Tom de Koning, Kurt von Figura, Ludwig Lehle, Christian Körner
Am J Hum Genet. 2004 Mar; 74(3): 472–481. Published online 2004 Feb 16. doi: 10.1086/382492
PMCID:
PMC1182261
AbstractArticlePDF–249K

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