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Results:
1-24
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Results: 24
Authors:
Westphal, V
Peterson, S
Patterson, M
Tournay, A
Blumenthal, A
Treacy, EP
Freeze, HH
Citation: V. Westphal et al., Functional significance of PMM2 mutations in mildly affected patients withcongenital disorders of glycosylation Ia, GENET MED, 3(6), 2001, pp. 393-398
Authors:
Westphal, V
Enns, GM
McCracken, MF
Freeze, HH
Citation: V. Westphal et al., Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry, MOL GEN MET, 73(1), 2001, pp. 71-76
Authors:
Westphal, V
Kjaergaard, S
Davis, JA
Peterson, SM
Skovby, F
Freeze, HH
Citation: V. Westphal et al., Genetic and metabolic analysis of the first adult with congenital disorderof glycosylation type Ib: Long-term outcome and effects of mannose supplementation, MOL GEN MET, 73(1), 2001, pp. 77-85
Authors:
Davis, JA
Freeze, HH
Citation: Ja. Davis et Hh. Freeze, Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse, BBA-GEN SUB, 1528(2-3), 2001, pp. 116-126
Authors:
Freeze, HH
Westphal, V
Citation: Hh. Freeze et V. Westphal, Balancing N-linked glycosylation to avoid disease, BIOCHIMIE, 83(8), 2001, pp. 791-799
Authors:
Freeze, HH
Citation: Hh. Freeze, Congenital disorders of glycosylation and the pediatric liver, SEM LIV DIS, 21(4), 2001, pp. 501-515
Authors:
Srikrishna, G
Panneerselvam, K
Westphal, V
Abraham, V
Varki, A
Freeze, HH
Citation: G. Srikrishna et al., Two proteins modulating transendothelial migration of leukocytes recognizenovel carboxylated glycans on endothelial cells, J IMMUNOL, 166(7), 2001, pp. 4678-4688
Authors:
Srikrishna, G
Toomre, DK
Manzi, A
Panneerselvam, K
Freeze, HH
Varki, A
Varki, NM
Citation: G. Srikrishna et al., A novel anionic modification of N-glycans on mammalian endothelial cells is recognized by activated neutrophils and modulates acute inflammatory responses, J IMMUNOL, 166(1), 2001, pp. 624-632
Authors:
Kranz, C
Denecke, J
Lehrman, MA
Ray, S
Kienz, P
Kreissel, G
Sagi, D
Peter-Katalinic, J
Freeze, HH
Schmid, T
Jackowski-Dohrmann, S
Harms, E
Marquardt, T
Citation: C. Kranz et al., A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If), J CLIN INV, 108(11), 2001, pp. 1613-1619
Authors:
Westphal, V
Srikrishna, G
Freeze, HH
Citation: V. Westphal et al., Congenital disorders of glycosylation: Have you encountered them?, GENET MED, 2(6), 2000, pp. 329-337
Authors:
Westphal, V
Schottstadt, C
Marquardt, T
Freeze, HH
Citation: V. Westphal et al., Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic, MOL GEN MET, 70(3), 2000, pp. 219-223
Authors:
Rush, JS
Panneerselvam, K
Waechter, CJ
Freeze, HH
Citation: Js. Rush et al., Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG), GLYCOBIOLOG, 10(8), 2000, pp. 829-835
Authors:
Freeze, HH
Aebi, M
Citation: Hh. Freeze et M. Aebi, Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity (vol 1455, pg 167, 1999), BBA-MOL BAS, 1500(3), 2000, pp. 349-349
Authors:
Kim, S
Westphal, V
Srikrishna, G
Mehta, DP
Peterson, S
Filiano, J
Karnes, PS
Patterson, MC
Freeze, HH
Citation: S. Kim et al., Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie), J CLIN INV, 105(2), 2000, pp. 191-198
Authors:
Westphal, V
Murch, S
Kim, S
Srikrishna, G
Winchester, B
Day, R
Freeze, HH
Citation: V. Westphal et al., Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation, AM J PATH, 157(6), 2000, pp. 1917-1925
Authors:
Miura, Y
Ding, YL
Manzi, A
Hindsgaul, O
Freeze, HH
Citation: Y. Miura et al., Characterization of mammalian UDP-GalNAc : glucuronide alpha 1-4-N-acetylgalactosaminyltransferase, GLYCOBIOLOG, 9(10), 1999, pp. 1053-1060
Authors:
Freeze, HH
Aebi, M
Citation: Hh. Freeze et M. Aebi, Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity, BBA-MOL BAS, 1455(2-3), 1999, pp. 167-178
Authors:
Ding, YL
Miura, Y
Etchison, JR
Freeze, HH
Hindsgaul, O
Citation: Yl. Ding et al., Synthesis of a library of beta-GlcNAc glycosides to screen for efficient in vivo glycosyltransferase acceptors, J CARB CHEM, 18(4), 1999, pp. 471-475
Authors:
Tamura, J
Miura, Y
Freeze, HH
Citation: J. Tamura et al., Synthesis of beta-GlcA-(1 -> 3)-beta-Gal and alpha-GalNAc-(1 -> 4)-beta-GlcA-(1 -> 3)-beta-Gal as biotinylated 2-aminoethyl glycoside and the streptavidin complex formation, J CARB CHEM, 18(1), 1999, pp. 1-14
Authors:
Miura, Y
Kim, S
Etchison, JR
Ding, YL
Hindsgaul, O
Freeze, HH
Citation: Y. Miura et al., Aglycone structure influences alpha-fucosyltransferase III activity using N-acetyllactosamine glycoside acceptors, GLYCOCON J, 16(11), 1999, pp. 725-730
Authors:
Babovic-Vuksanovic, D
Patterson, MC
Schwenk, WF
O'Brien, JF
Vockley, J
Freeze, HH
Mehta, DP
Michels, VV
Citation: D. Babovic-vuksanovic et al., Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome, J PEDIAT, 135(6), 1999, pp. 775-781
Authors:
Marquardt, T
Brune, T
Luhn, K
Zimmer, KP
Korner, C
Fabritz, L
van der Werft, N
Vormoor, J
Freeze, HH
Louwen, F
Biermann, B
Harms, E
von Figura, K
Vestweber, D
Koch, HG
Citation: T. Marquardt et al., Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism, J PEDIAT, 134(6), 1999, pp. 681-688
Authors:
Marquardt, T
Luhn, K
Srikrishna, G
Freeze, HH
Harms, E
Vestweber, D
Citation: T. Marquardt et al., Correction of leukocyte adhesion deficiency type II with oral fucose, BLOOD, 94(12), 1999, pp. 3976-3985
Authors:
Freeze, HH
Citation: Hh. Freeze, Human glycosylation disorders and sugar supplement therapy, BIOC BIOP R, 255(2), 1999, pp. 189-193
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