-
1
-
-
0002812571
-
Leukocyte adhesion deficiencies
-
Scriver C, Beaudet AL, Sly WS, Valle D, editors. 8th ed. New York: McGraw-Hill
-
Anderson DC, Smith CW. Leukocyte adhesion deficiencies. In: Scriver C, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill; 2001. p. 4829-4856
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 4829-4856
-
-
Anderson, D.C.1
Smith, C.W.2
-
2
-
-
38049016006
-
Successful treatment of canine leukocyte adhesion deficiency by foamy virus vector
-
Bauer TR, Allen JM, Hai M, Tuschong LM, Khan IF, Olson EM, et al. Successful treatment of canine leukocyte adhesion deficiency by foamy virus vector. Nat Med. 2008;14:93-97
-
(2008)
Nat Med.
, vol.14
, pp. 93-97
-
-
Bauer, T.R.1
Allen, J.M.2
Hai, M.3
Tuschong, L.M.4
Khan, I.F.5
Olson, E.M.6
-
3
-
-
33748752300
-
Leukocyte adhesion deficiency II advances and open questions
-
Yakubenia S, Wild MK. Leukocyte adhesion deficiency II advances and open questions. FEBS J. 2006;273:4390-4398
-
(2006)
FEBS J.
, vol.273
, pp. 4390-4398
-
-
Yakubenia, S.1
Wild, M.K.2
-
4
-
-
0032763425
-
Correction of leukocyte adhesion deficiency type II with oral fucose
-
Marquardt T, Lühn K, Srikrishna G, Freeze HH, Harms E, Vestweber D. Correction of leukocyte adhesion deficiency type II with oral fucose. Blood. 1999;94:3976-3985
-
(1999)
Blood.
, vol.94
, pp. 3976-3985
-
-
Marquardt, T.1
Lühn, K.2
Srikrishna, G.3
Freeze, H.H.4
Harms, E.5
Vestweber, D.6
-
5
-
-
0034210961
-
Fucose supplementation in leukocyte adhesion deficiency type II
-
Etzioni A, Tonetti M, Vestweber D, Marquardt T. Fucose supplementation in leukocyte adhesion deficiency type II. Blood. 2000;95:3641-3643
-
(2000)
Blood.
, vol.95
, pp. 3641-3643
-
-
Etzioni, A.1
Tonetti, M.2
Vestweber, D.3
Marquardt, T.4
-
6
-
-
0141670816
-
LAD III a novel group of leukocyte integrin activation deficiencies
-
Alon R, Etioni A. LAD III, a novel group of leukocyte integrin activation deficiencies. Trends Immunol. 2003;24:561-566
-
(2003)
Trends Immunol.
, vol.24
, pp. 561-566
-
-
Alon, R.1
Etioni, A.2
-
7
-
-
55249083592
-
Kindlin-3: A new gene involved in the pathogenesis of LAD III
-
Mory A, Feigelson SW, Yarali N, Kilic SS, Bayhon GI, Gershoni-Baruch R. Kindlin-3: a new gene involved in the pathogenesis of LAD III. Blood. 2008;112:2591.
-
(2008)
Blood.
, vol.112
, pp. 2591
-
-
Mory, A.1
Feigelson, S.W.2
Yarali, N.3
Kilic, S.S.4
Bayhon, G.I.5
Gershoni-Baruch, R.6
-
8
-
-
61949086409
-
Leukocyte adhesion deficiency III is caused by mutations in Kindlin3 affecting integrin activation
-
Svensson L, Howarth K, McDowall A, Patzak I, Evans R, Ussar S, et al. Leukocyte adhesion deficiency III is caused by mutations in Kindlin3 affecting integrin activation. Nat Med. 2009;15:306-312
-
(2009)
Nat Med.
, vol.15
, pp. 306-312
-
-
Svensson, L.1
Howarth, K.2
McDowall, A.3
Patzak, I.4
Evans, R.5
Ussar, S.6
-
9
-
-
0026448082
-
Brief report: Recurrent severe infections caused by a novel leukocyte adhesion deficiency
-
Etzioni A, Frydman M, Pollack S, Avidor I, Phillips ML, Paulson JR, et al. Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med. 1992;327(25):1789-1792
-
(1992)
N Engl J Med.
, vol.327
, Issue.25
, pp. 1789-1792
-
-
Etzioni, A.1
Frydman, M.2
Pollack, S.3
Avidor, I.4
Phillips, M.L.5
Paulson, J.R.6
-
10
-
-
0026758991
-
Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype
-
Frydman M, Etzioni A, Eidlitz-Markus T, Avidor I, Varsano I, Shechter Y, et al. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. Am J Med Genet. 1992;44:297-302.
-
(1992)
Am J Med Genet.
, vol.44
, pp. 297-302
-
-
Frydman, M.1
Etzioni, A.2
Eidlitz-Markus, T.3
Avidor, I.4
Varsano, I.5
Shechter, Y.6
-
11
-
-
0037097344
-
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG)IIc founder effect and genotype/phenotype correlation
-
Etzioni A, Sturla L, Antonellis A, Green ED, Gershoni-Baruch R, Berninsone PM, et al. Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG)IIc founder effect and genotype/phenotype correlation. Am J Med Genet. 2002;110:131-135
-
(2002)
Am J Med Genet.
, vol.110
, pp. 131-135
-
-
Etzioni, A.1
Sturla, L.2
Antonellis, A.3
Green, E.D.4
Gershoni-Baruch, R.5
Berninsone, P.M.6
-
12
-
-
0033506410
-
Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism
-
Marquardt T, Brune T, Lühn K, Zimmer KP, Korner C, Fahntz L, et al. Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism. J Pediatr. 1999;134:681-688
-
(1999)
J Pediatr.
, vol.134
, pp. 681-688
-
-
Marquardt, T.1
Brune, T.2
Lühn, K.3
Zimmer, K.P.4
Korner, C.5
Fahntz, L.6
-
13
-
-
0037370699
-
Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene
-
Hidalgo A, Ma S, Peired AJ, Weiss LA, Cunningham-Rundles C, Frenette PS. Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene. Blood. 2003;101:1705-1712
-
(2003)
Blood.
, vol.101
, pp. 1705-1712
-
-
Hidalgo, A.1
Ma, S.2
Peired, A.J.3
Weiss, L.A.4
Cunningham-Rundles, C.5
Frenette, P.S.6
-
14
-
-
33646580079
-
Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter
-
Helmus Y, Denecke J, Yakubenia S, Robinson P, Luhn K, Watson DL, et al. Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter. Blood. 2006;107:3959-3966
-
(2006)
Blood.
, vol.107
, pp. 3959-3966
-
-
Helmus, Y.1
Denecke, J.2
Yakubenia, S.3
Robinson, P.4
Luhn, K.5
Watson, D.L.6
-
18
-
-
0035165830
-
Discontinuation of fucose therapy in LAD II causes rapid loss of selectin ligands and rise of leukocyte counts
-
Lühn K, Marquardt T, Harm E, Vestweber D. Discontinuation of fucose therapy in LAD II causes rapid loss of selectin ligands and rise of leukocyte counts. Blood. 2001;97:330-332
-
(2001)
Blood.
, vol.97
, pp. 330-332
-
-
Lühn, K.1
Marquardt, T.2
Harm, E.3
Vestweber, D.4
-
19
-
-
0035069057
-
Impairment of the Golgi GDP-L-fucose transport and unresponsiveness to fucose replacement therapy in LAD II patients
-
Sturla L, Puglielli L, Tonetti M, Berninsone P, Hirschberg CB, De Fiora A, et al. Impairment of the Golgi GDP-L-fucose transport and unresponsiveness to fucose replacement therapy in LAD II patients. Pediatr Res. 2001;49(4):537-542
-
(2001)
Pediatr Res.
, vol.49
, Issue.4
, pp. 537-542
-
-
Sturla, L.1
Puglielli, L.2
Tonetti, M.3
Berninsone, P.4
Hirschberg, C.B.5
De Fiora, A.6
-
20
-
-
0033333620
-
Carbohydrate deficient glycoprotein syndrome becomes congenital disorder of glycosylation: An updated nomenclature for CDG. First International Workshop on CDGS
-
Aebi M, Helenius A, Schenk B, Barone R, Fiumara A, Berger EG, et al. Carbohydrate deficient glycoprotein syndrome becomes congenital disorder of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J. 1999; 16:669-671
-
(1999)
Glycoconj J.
, vol.16
, pp. 669-671
-
-
Aebi, M.1
Helenius, A.2
Schenk, B.3
Barone, R.4
Fiumara, A.5
Berger, E.G.6
-
21
-
-
0035036072
-
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency
-
Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Körner C. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet. 2001;28:73-76
-
(2001)
Nat Genet.
, vol.28
, pp. 73-76
-
-
Lübke, T.1
Marquardt, T.2
Etzioni, A.3
Hartmann, E.4
Von Figura, K.5
Körner, C.6
-
22
-
-
0035036832
-
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter
-
Lühn K, Wild MD, Gerardy-Schahn R, Vestweber D. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet. 2001;28:69-72.
-
(2001)
Nat Genet.
, vol.28
, pp. 69-72
-
-
Lühn, K.1
Wild, M.D.2
Gerardy-Schahn, R.3
Vestweber, D.4
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