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Page 1
Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.
Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K. Körner C, et al. Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13200-5. doi: 10.1073/pnas.95.22.13200. Proc Natl Acad Sci U S A. 1998. PMID: 9789065 Free PMC article.
Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase is the cause of an additional type of carbohydrate-deficient glycoprotein syndrome (CDGS type V). ...As a result of the glucosyltransferase deficiency in CDGS …
Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase is the cause of an additional type of carbohydrate- …
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Wilson MP, Durin Z, Unal Ö, Ng BG, Marrecau T, Keldermans L, Souche E, Rymen D, Gündüz M, Köse G, Sturiale L, Garozzo D, Freeze HH, Jaeken J, Foulquier F, Matthijs G. Wilson MP, et al. Hum Mol Genet. 2022 Aug 17;31(15):2571-2581. doi: 10.1093/hmg/ddac055. Hum Mol Genet. 2022. PMID: 35262690 Free PMC article.
The patient displays a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a combined O-linked and type II N-linked glycosylation defect was found. ...This is the first repor …
The patient displays a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnorma
Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I.
Stibler H, Holzbach U, Tengborn L, Kristiansson B. Stibler H, et al. Blood Coagul Fibrinolysis. 1996 Mar;7(2):118-26. doi: 10.1097/00001721-199603000-00003. Blood Coagul Fibrinolysis. 1996. PMID: 8735800
Carbohydrate-deficient glycoprotein (CDG) syndrome type I is an autosomal recessive disease with multisystemic manifestations. ...Partially carbohydrate-deficient isoforms were demonstrated in antithrombin, protein C, protein S and
Carbohydrate-deficient glycoprotein (CDG) syndrome type I is an autosomal recessive disease with multisys
Defective mucin-type glycosylation on alpha-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases.
Yu SH, Zhao P, Prabhakar PK, Sun T, Beedle A, Boons GJ, Moremen KW, Wells L, Steet R. Yu SH, et al. J Biol Chem. 2018 Sep 14;293(37):14534-14544. doi: 10.1074/jbc.RA118.003014. Epub 2018 Jul 26. J Biol Chem. 2018. PMID: 30049793 Free PMC article.
Deficiency in subunits of the conserved oligomeric Golgi (COG) complex results in pleiotropic defects in glycosylation and causes congenital disorders in humans. Insight regarding the functional consequences of this defective glycosylation and the iden …
Deficiency in subunits of the conserved oligomeric Golgi (COG) complex results in pleiotropic defects in glycosylation and causes …
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.
Marques-da-Silva D, Francisco R, Webster D, Dos Reis Ferreira V, Jaeken J, Pulinilkunnil T. Marques-da-Silva D, et al. J Inherit Metab Dis. 2017 Sep;40(5):657-672. doi: 10.1007/s10545-017-0066-y. Epub 2017 Jul 19. J Inherit Metab Dis. 2017. PMID: 28726068 Review.
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. ...CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosy
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA. Guillard M, et al. Biochim Biophys Acta. 2009 Sep;1792(9):903-14. doi: 10.1016/j.bbadis.2008.12.009. Epub 2009 Jan 8. Biochim Biophys Acta. 2009. PMID: 19171192 Free article. Review.
Defects in the glycan biosynthesis result in congenital malformation syndromes, also known as congenital disorders of glycosylation (CDG). Based on the iso-electric focusing patterns of plasma transferrin and apolipoprotein C-III a combined defe …
Defects in the glycan biosynthesis result in congenital malformation syndromes, also known as congenital disorders o
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.
Grünewald S, Imbach T, Huijben K, Rubio-Gozalbo ME, Verrips A, de Klerk JB, Stroink H, de Rijk-van Andel JF, Van Hove JL, Wendel U, Matthijs G, Hennet T, Jaeken J, Wevers RA. Grünewald S, et al. Ann Neurol. 2000 Jun;47(6):776-81. Ann Neurol. 2000. PMID: 10852543
We report on 8 patients with a recently described novel subtype of congenital disorder of glycosylation type Ic (CDG-Ic). Their clinical presentation was mainly neurological with developmental retardation, muscular hypotonia, and epilepsy. ...
We report on 8 patients with a recently described novel subtype of congenital disorder of glycosylation type Ic …
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. Imbach T, et al. Hum Genet. 2000 May;106(5):538-45. doi: 10.1007/s004390000293. Hum Genet. 2000. PMID: 10914684
Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent a family of genetic diseases with variable clinical presentations. ...Haplotype analysis of CDG-Ic
Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprot
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T. Imbach T, et al. Proc Natl Acad Sci U S A. 1999 Jun 8;96(12):6982-7. doi: 10.1073/pnas.96.12.6982. Proc Natl Acad Sci U S A. 1999. PMID: 10359825 Free PMC article.
Carbohydrate-deficient glycoprotein syndrome (CDGS) represents a class of genetic diseases characterized by abnormal N-linked glycosylation. CDGS patients show a large number of glycoprotein abnormalities resulting in dysmor
Carbohydrate-deficient glycoprotein syndrome (CDGS) represents a class of genetic diseases characterized
Congenital disorder of glycosylation type Ic: report of a Japanese case.
Ichikawa K, Kadoya M, Wada Y, Okamoto N. Ichikawa K, et al. Brain Dev. 2013 Jun;35(6):586-9. doi: 10.1016/j.braindev.2012.09.003. Epub 2012 Oct 6. Brain Dev. 2013. PMID: 23044053
Congenital disorders of glycosylation (CDG) are inherited metabolic diseases affecting N-linked glycosylation pathways with variable clinical presentations characterized by psychomotor retardation, seizures, ataxia and hypotonia. ...MR im
Congenital disorders of glycosylation (CDG) are inherited metabolic diseases affecting N-linked glycos
40 results