-
1
-
-
70349165974
-
COG defects, birth and rise!
-
Foulquier F (2009) COG defects, birth and rise! Biochim Biophys Acta 1792:896–902
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 896-902
-
-
Foulquier, F.1
-
2
-
-
33745381312
-
Genetic defects in the human glycome
-
Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7:537–551
-
(2006)
Nat Rev Genet
, vol.7
, pp. 537-551
-
-
Freeze, H.H.1
-
4
-
-
0021686784
-
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized syndrome
-
Jaeken J, van Eijk HG, van der Heul C et al (1984) Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized syndrome. Clin Chim Acta 144:245–247
-
(1984)
Clin Chim Acta
, vol.144
, pp. 245-247
-
-
Jaeken, J.1
van Eijk, H.G.2
van der Heul, C.3
-
5
-
-
35548972537
-
Congenital disorders of glycosylation: A rapidly expanding disease family
-
Jacken J, Matthys G (2007) Congenital disorders of glycosylation: a rapidly expanding disease family. Ann Rev Genomics Atom Genet 8:261–278
-
(2007)
Ann Rev Genomics Atom Genet
, vol.8
, pp. 261-278
-
-
Jacken, J.1
Matthys, G.2
-
8
-
-
77956096967
-
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
-
Lüubbehusen J, Thiel C, Rind N et al (2010) Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. Hum Mol Genet 19:3623–3633
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3623-3633
-
-
Lüubbehusen, J.1
Thiel, C.2
Rind, N.3
-
9
-
-
70350690698
-
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation
-
Paesold-Burda P, Maag C, Troxler H et al (2009) Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. Hum Mol Genet 18:4350–4356
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4350-4356
-
-
Paesold-Burda, P.1
Maag, C.2
Troxler, H.3
-
10
-
-
68749117665
-
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
-
Reynders E, Foulquier F, Leão TE et al (2009) Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet 18:3244–3256
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3244-3256
-
-
Reynders, E.1
Foulquier, F.2
Leão, T.E.3
-
11
-
-
79958798009
-
How Golgi glycosylation meets and needs trafficking: The case of the COG complex
-
Reynders E, Foulquier F, Annaert W, Matthijs G (2011) How Golgi glycosylation meets and needs trafficking: the case of the COG complex. Glycobiology 21:853–863
-
(2011)
Glycobiology
, vol.21
, pp. 853-863
-
-
Reynders, E.1
Foulquier, F.2
Annaert, W.3
Matthijs, G.4
-
12
-
-
25844445924
-
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia
-
Sturiale L, Barone R, Fiumara A et al (2005) Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 15:1268–1276
-
(2005)
Glycobiology
, vol.15
, pp. 1268-1276
-
-
Sturiale, L.1
Barone, R.2
Fiumara, A.3
-
13
-
-
0242331110
-
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis
-
Wopereis S, Grüunewald S, Morava E et al (2003) Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem 49:1839–1845
-
(2003)
Clin Chem
, vol.49
, pp. 1839-1845
-
-
Wopereis, S.1
Grüunewald, S.2
Morava, E.3
-
14
-
-
36849029786
-
Deficiencies in subunits of the conserved oligomeric Golgi (COG) complex define a novel group of congenital disorders of glycosylation
-
Zeevaert R, Foulquier F, Jaeken J, Matthijs G (2008) Deficiencies in subunits of the conserved oligomeric Golgi (COG) complex define a novel group of congenital disorders of glycosylation. Mol Genet Metab 93:261–278
-
(2008)
Mol Genet Metab
, vol.93
, pp. 261-278
-
-
Zeevaert, R.1
Foulquier, F.2
Jaeken, J.3
Matthijs, G.4
-
15
-
-
58749088569
-
Cerebrocostomandib-ular-like syndrome and a mutation in the conserved oligomeric Golgi complex subunit 1
-
Zeevaert R, Foulquier F, Dimitrov B et al (2009) Cerebrocostomandib-ular-like syndrome and a mutation in the conserved oligomeric Golgi complex subunit 1. Hum Mol Genet 18:517–524
-
(2009)
Hum Mol Genet
, vol.18
, pp. 517-524
-
-
Zeevaert, R.1
Foulquier, F.2
Dimitrov, B.3
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