-
1
-
-
35548972537
-
Congenital disorders of glycosylation: A rapidly expanding disease family
-
Jaeken J, Matthijs G: Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet 2007;8:261-278.
-
(2007)
Annu Rev Genomics Hum Genet
, vol.8
, pp. 261-278
-
-
Jaeken, J.1
Matthijs, G.2
-
2
-
-
0035717599
-
Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed asian ancestry
-
DOI 10.1006/mgme.2001.3174
-
Westphal V, Enns GM, McCracken MF, Freeze HH: Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. Mol Genet Metab 2001;73:71-76. (Pubitemid 34177626)
-
(2001)
Molecular Genetics and Metabolism
, vol.73
, Issue.1
, pp. 71-76
-
-
Westphal, V.1
Enns, G.M.2
McCracken, M.F.3
Freeze, H.H.4
-
3
-
-
0000249979
-
Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TGB deficiency, increased serum arylsulfatase a and increased CSF protein: A new syndrome?
-
Jaeken J, Vanderschueren-Lodewyckx M, Caeser P, Snoeck L, Corbeel L, Eggermont E, et al: Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TGB deficiency, increased serum arylsulfatase A and increased CSF protein: a new syndrome? Pediatr Res 1980;14:179.
-
(1980)
Pediatr Res
, vol.14
, pp. 179
-
-
Jaeken, J.1
Vanderschueren-Lodewyckx, M.2
Caeser, P.3
Snoeck, L.4
Corbeel, L.5
Eggermont, E.6
-
4
-
-
33745381312
-
Genetic defects in the human glycome
-
Freeze HH: Genetic defects in the human glycome. Nat Rev Genet 2006;7:537-551.
-
(2006)
Nat Rev Genet
, vol.7
, pp. 537-551
-
-
Freeze, H.H.1
-
5
-
-
0031744335
-
Disorders in protein glycosylation and potential therapy: Tip of an iceberg?
-
Freeze HH: Disorders in protein glycosylation and potential therapy: tip of an iceberg? J Pediatr 1998;133:593-600.
-
(1998)
J Pediatr
, vol.133
, pp. 593-600
-
-
Freeze, H.H.1
-
6
-
-
0037605951
-
Congenital disorders of glycosylation: Review of their molecular bases, clinical presentations and specific therapies
-
Marquardt T, Denecke J: Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 2003;162:359-379. (Pubitemid 36693736)
-
(2003)
European Journal of Pediatrics
, vol.162
, Issue.6
, pp. 359-379
-
-
Marquardt, T.1
Denecke, J.2
-
7
-
-
0035136834
-
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases
-
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V: A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet 2001;38:14-19. (Pubitemid 32102317)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.1
, pp. 14-19
-
-
De Lonlay, P.1
Seta, N.2
Barrot, S.3
Chabrol, B.4
Drouin, V.5
Gabriel, B.M.6
Journel, H.7
Kretz, M.8
Laurent, J.9
Le Merrer, M.10
Leroy, A.11
Pedespan, D.12
Sarda, P.13
Villeneuve, N.14
Schmitz, J.15
Van Schaftingen, E.16
Matthijs, G.17
Jaeken, J.18
Korner, C.19
Munnich, A.20
Saudubray, J.M.21
Cormier-Daire, V.22
more..
-
8
-
-
3442881366
-
Congenital disorders of glycosylation: A booming chapter of pediatrics
-
DOI 10.1097/01.mop.0000133636.56790.4a
-
Jaeken J, Carchon H: Congenital disorders of glycosylation: a booming chapter of pediatrics. Curr Opin Pediatr 2004;16:434-439. (Pubitemid 39006493)
-
(2004)
Current Opinion in Pediatrics
, vol.16
, Issue.4
, pp. 434-439
-
-
Jaeken, J.1
Carchon, H.2
-
9
-
-
0033736282
-
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
-
DOI 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y
-
Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B: Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat 2000;16:386-394. (Pubitemid 30803554)
-
(2000)
Human Mutation
, vol.16
, Issue.5
, pp. 386-394
-
-
Matthijs, G.1
Schollen, E.2
Bjursell, C.3
Erlandson, A.4
Freeze, H.5
Imtiaz, F.6
Kjaergaard, S.7
Martinsson, T.8
Schwartz, M.9
Seta, N.10
Vuillaumier-Barrot, S.11
Westphal, V.12
Winchester, B.13
-
10
-
-
33947573898
-
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients
-
DOI 10.1016/j.ymgme.2007.01.003, PII S1096719207000273
-
Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sánchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G: Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab 2007;90:408-413. (Pubitemid 46484434)
-
(2007)
Molecular Genetics and Metabolism
, vol.90
, Issue.4
, pp. 408-413
-
-
Schollen, E.1
Keldermans, L.2
Foulquier, F.3
Briones, P.4
Chabas, A.5
Sanchez-Valverde, F.6
Adamowicz, M.7
Pronicka, E.8
Wevers, R.9
Matthijs, G.10
-
11
-
-
0032501263
-
CDGS-1 - a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80,000, difficult to treat
-
in Swedish
-
Kristiansson B, Stibler H, Hagberg B, Wahlström J: CDGS-1 - a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80,000, difficult to treat (in Swedish). Läkartidningen 1998:95:5742-5748.
-
(1998)
Läkartidningen
, vol.95
, pp. 5742-5748
-
-
Kristiansson, B.1
Stibler, H.2
Hagberg, B.3
Wahlström, J.4
-
12
-
-
0034141605
-
Carbohydrate-deficient blood glycoprotein syndrome
-
de Lonlay P, Cormier-Daire V, Vuillaumier-Barrot S, Cuer M, Durand G, Munnich A, Saudubray JM, Seta N: Carbohydrate-deficient blood glycoprotein syndrome. Arch Pediatr 2000:7:173-184.
-
(2000)
Arch Pediatr
, vol.7
, pp. 173-184
-
-
De Lonlay, P.1
Cormier-Daire, V.2
Vuillaumier-Barrot, S.3
Cuer, M.4
Durand, G.5
Munnich, A.6
Saudubray, J.M.7
Seta, N.8
-
13
-
-
34249884225
-
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality
-
DOI 10.1002/ajmg.a.31791
-
Kranz C, Basinger AA, Güçsavaş-Calikoǧlu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH: Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A 2007;143A:1371-1378. (Pubitemid 46870107)
-
(2007)
American Journal of Medical Genetics, Part a
, vol.143
, Issue.12
, pp. 1371-1378
-
-
Kranz, C.1
Basinger, A.A.2
Gucsavas-Calikoglu, M.3
Sun, L.4
Powell, C.M.5
Henderson, F.W.6
Aylsworth, A.S.7
Freeze, H.H.8
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