-
1
-
-
79953696794
-
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism
-
Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Gen. 2011;88:402-21.
-
(2011)
Am J Hum Gen.
, vol.88
, pp. 402-421
-
-
Erez, A.1
Shchelochkov, O.A.2
Plon, S.E.3
Scaglia, F.4
Lee, B.5
-
2
-
-
34548175657
-
Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease
-
Hughes D, Cappellini MD, Berger M, Van Droogenbroeck J, de Fost M, Janic D, Marinakis T, Rosenbaum H, Villarubia J, Zhukovskaya E, Hollak C. Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Brit J Haematol. 2007;138:676-86.
-
(2007)
Brit J Haematol.
, vol.138
, pp. 676-686
-
-
Hughes, D.1
Cappellini, M.D.2
Berger, M.3
van Droogenbroeck, J.4
de Fost, M.5
Janic, D.6
Marinakis, T.7
Rosenbaum, H.8
Villarubia, J.9
Zhukovskaya, E.10
Hollak, C.11
-
3
-
-
4744343655
-
Gaucher disease: Complexity in a "simple" disorder
-
Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mole Gen Metab. 2004;83:6-15.
-
(2004)
Mole Gen Metab.
, vol.83
, pp. 6-15
-
-
Sidransky, E.1
-
4
-
-
53049096591
-
Phenotype, diagnosis, and treatment of Gaucher's disease
-
Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008;372:1263-71.
-
(2008)
Lancet.
, vol.372
, pp. 1263-1271
-
-
Grabowski, G.A.1
-
5
-
-
79959798635
-
Pulmonary vascular disease in Gaucher disease: Clinical spectrum, determinants of phenotype and long-term outcomes of therapy
-
Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy. J Inher Metab Dis. 2011;34:643-50.
-
(2011)
J Inher Metab Dis.
, vol.34
, pp. 643-650
-
-
Lo, S.M.1
Liu, J.2
Chen, F.3
Pastores, G.M.4
Knowles, J.5
Boxer, M.6
Aleck, K.7
Mistry, P.K.8
-
6
-
-
0030981109
-
Pulmonary hypertension in two patients with type I Gaucher disease while on alglucerase therapy
-
Harats D, Pauzner R, Elstein D, Many A, Klutstein MW, Kramer MR, Farfel Z, Zimran A. Pulmonary hypertension in two patients with type I Gaucher disease while on alglucerase therapy. Acta Haematol. 1997;98(1):47-50.
-
(1997)
Acta Haematol.
, vol.98
, Issue.1
, pp. 47-50
-
-
Harats, D.1
Pauzner, R.2
Elstein, D.3
Many, A.4
Klutstein, M.W.5
Kramer, M.R.6
Farfel, Z.7
Zimran, A.8
-
7
-
-
77953229340
-
The risk of Parkinson's disease in type 1 Gaucher disease
-
Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK. The risk of Parkinson's disease in type 1 Gaucher disease. J Inher Metab Dis. 2010;33:167-73.
-
(2010)
J Inher Metab Dis.
, vol.33
, pp. 167-173
-
-
Bultron, G.1
Kacena, K.2
Pearson, D.3
Boxer, M.4
Yang, R.5
Sathe, S.6
Pastores, G.7
Mistry, P.K.8
-
8
-
-
10844278246
-
Parkinsonism among Gaucher disease carriers
-
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Gen. 2004;41:937-40.
-
(2004)
J Med Gen.
, vol.41
, pp. 937-940
-
-
Goker-Alpan, O.1
Schiffmann, R.2
LaMarca, M.E.3
Nussbaum, R.L.4
McInerney-Leo, A.5
Sidransky, E.6
-
9
-
-
0029773625
-
Occurrence of Parkinson's syndrome in type I Gaucher disease
-
Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM. 1996;89(9):691-4.
-
(1996)
QJM.
, vol.89
, Issue.9
, pp. 691-694
-
-
Neudorfer, O.1
Giladi, N.2
Elstein, D.3
Abrahamov, A.4
Turezkite, T.5
Aghai, E.6
Reches, A.7
Bembi, B.8
Zimran, A.9
-
10
-
-
18844449947
-
Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic
-
Zimran A, Liphshitz I, Barchana M, Abrahamov A, Elstein D. Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cell Mol Dis. 2005;34:197-200.
-
(2005)
Blood Cell Mol Dis.
, vol.34
, pp. 197-200
-
-
Zimran, A.1
Liphshitz, I.2
Barchana, M.3
Abrahamov, A.4
Elstein, D.5
-
11
-
-
30344488170
-
Increased incidence of cancer in adult Gaucher disease in Western Europe
-
de Fost M, Vom Dahl S, Weverling GJ, Brill N, Brett S, Haussinger D, Hollak CE. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cell Mol Dis. 2006;36:53-8.
-
(2006)
Blood Cell Mol Dis.
, vol.36
, pp. 53-58
-
-
de Fost, M.1
Vom Dahl, S.2
Weverling, G.J.3
Brill, N.4
Brett, S.5
Haussinger, D.6
Hollak, C.E.7
-
12
-
-
18844388455
-
Gaucher disease and cancer incidence: A study from the Gaucher Registry
-
Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood. 2005;105:4569-72.
-
(2005)
Blood.
, vol.105
, pp. 4569-4572
-
-
Rosenbloom, B.E.1
Weinreb, N.J.2
Zimran, A.3
Kacena, K.A.4
Charrow, J.5
Ward, E.6
-
13
-
-
64549119033
-
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
-
Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol. 2009;84:208-14.
-
(2009)
Am J Hematol.
, vol.84
, pp. 208-214
-
-
Taddei, T.H.1
Kacena, K.A.2
Yang, M.3
Yang, R.4
Malhotra, A.5
Boxer, M.6
Aleck, K.A.7
Rennert, G.8
Pastores, G.M.9
Mistry, P.K.10
-
14
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, Grewal RP, Yu K. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. NEJM. 1991;324:1464-1470.
-
(1991)
NEJM.
, vol.324
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
Di Bisceglie, A.M.4
Doppelt, S.H.5
Hill, S.C.6
Mankin, H.J.7
Murray, G.J.8
Parker, R.I.9
Argoff, C.E.10
Grewal, R.P.11
Yu, K.12
-
15
-
-
79959945443
-
Gaucher disease: Clinical profile and therapeutic developments
-
Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biologics: Targets & Therapy. 2010;4:299-313.
-
(2010)
Biologics: Targets & Therapy.
, vol.4
, pp. 299-313
-
-
Cox, T.M.1
-
16
-
-
41349085850
-
Treatment perspectives for the lysosomal storage diseases
-
Grabowski GA. Treatment perspectives for the lysosomal storage diseases. Expert Opin Emerging Drugs. 2008;13:197-211.
-
(2008)
Expert Opin Emerging Drugs.
, vol.13
, pp. 197-211
-
-
Grabowski, G.A.1
-
17
-
-
34547660165
-
Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention
-
Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82:697-701.
-
(2007)
Am J Hematol.
, vol.82
, pp. 697-701
-
-
Mistry, P.K.1
Sadan, S.2
Yang, R.3
Yee, J.4
Yang, M.5
-
18
-
-
0020020927
-
Gaucher disease: A century of delineation and understanding
-
Desnick RJ. Gaucher disease: a century of delineation and understanding. Prog Clin Biol Res. 1982;95:1-30.
-
(1982)
Prog Clin Biol Res.
, vol.95
, pp. 1-30
-
-
Desnick, R.J.1
-
19
-
-
0029060711
-
Malignant epithelioid hemangioendothelioma of the tibia associated with a bone infarct in a patient who had Gaucher disease. A case report
-
Pins MR, Mankin HJ, Xavier RJ, Rosenthal DI, Dickersin GR, Rosenberg AE. Malignant epithelioid hemangioendothelioma of the tibia associated with a bone infarct in a patient who had Gaucher disease. A case report. J Bone Joint Surg Am. 1995;77:777-81.
-
(1995)
J Bone Joint Surg Am.
, vol.77
, pp. 777-781
-
-
Pins, M.R.1
Mankin, H.J.2
Xavier, R.J.3
Rosenthal, D.I.4
Dickersin, G.R.5
Rosenberg, A.E.6
-
20
-
-
0032992099
-
Hepatocellular carcinoma in a patient with Gaucher disease on enzyme supplementation therapy
-
Erjavec Z, Hollak CE, de Vries EG. Hepatocellular carcinoma in a patient with Gaucher disease on enzyme supplementation therapy. Ann Oncol ESMO. 1999;10:243.
-
(1999)
Ann Oncol ESMO.
, vol.10
, pp. 243
-
-
Erjavec, Z.1
Hollak, C.E.2
de Vries, E.G.3
-
22
-
-
20344377629
-
Hepatocellular carcinoma in type 1 Gaucher disease: A case report with review of the literature
-
Xu R, Mistry P, McKenna G, Emre S, Schiano T, Bu-Ghanim M, Levi G, Fiel MI. Hepatocellular carcinoma in type 1 Gaucher disease: a case report with review of the literature. Sem Liver Dis. 2005;25:226-9.
-
(2005)
Sem Liver Dis.
, vol.25
, pp. 226-229
-
-
Xu, R.1
Mistry, P.2
McKenna, G.3
Emre, S.4
Schiano, T.5
Bu-Ghanim, M.6
Levi, G.7
Fiel, M.I.8
-
23
-
-
0020014944
-
The pathology of Gaucher disease
-
Lee RE. The pathology of Gaucher disease. Prog Clin Biol Res. 1982;95:177-217.
-
(1982)
Prog Clin Biol Res.
, vol.95
, pp. 177-217
-
-
Lee, R.E.1
-
24
-
-
0027277054
-
Increased risk of cancer in patients with Gaucher disease
-
Shiran A, Brenner B, Laor A, Tatarsky I. Increased risk of cancer in patients with Gaucher disease. Cancer. 1993;72:219-24.
-
(1993)
Cancer.
, vol.72
, pp. 219-224
-
-
Shiran, A.1
Brenner, B.2
Laor, A.3
Tatarsky, I.4
-
25
-
-
77951523100
-
Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types-correlation with genotype and phenotype
-
Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, Mistry PK. Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types-correlation with genotype and phenotype. Am J Hematol. 2010;85:340-5.
-
(2010)
Am J Hematol.
, vol.85
, pp. 340-345
-
-
Lo, S.M.1
Stein, P.2
Mullaly, S.3
Bar, M.4
Jain, D.5
Pastores, G.M.6
Mistry, P.K.7
-
26
-
-
78650808636
-
JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease
-
Webb BD, Weinreb NJ, Botti AC, Kirmse BM, Balwani M. JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease. Blood Cell MolDis. 2011;46:103-4.
-
(2011)
Blood Cell MolDis.
, vol.46
, pp. 103-104
-
-
Webb, B.D.1
Weinreb, N.J.2
Botti, A.C.3
Kirmse, B.M.4
Balwani, M.5
-
27
-
-
34250312047
-
Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease
-
Landgren O, Turesson I, Gridley G, Caporaso NE. Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease. Arch Intern Med. 2007;167:1189-94.
-
(2007)
Arch Intern Med.
, vol.167
, pp. 1189-1194
-
-
Landgren, O.1
Turesson, I.2
Gridley, G.3
Caporaso, N.E.4
-
28
-
-
39549099482
-
Prevalence of type 1 Gaucher disease in the United States
-
Weinreb NJ, Andersson HC, Banikazemi M, Barranger J, Beutler E, Charrow J, Grabowski GA, Hollak CE, Kaplan P, Mankin H, Mistry PK, Rosenbloom BE, Vom Dahl S, Zimran A. Prevalence of type 1 Gaucher disease in the United States. Arch Intern Med. 2008;168:326-8.
-
(2008)
Arch Intern Med.
, vol.168
, pp. 326-328
-
-
Weinreb, N.J.1
Andersson, H.C.2
Banikazemi, M.3
Barranger, J.4
Beutler, E.5
Charrow, J.6
Grabowski, G.A.7
Hollak, C.E.8
Kaplan, P.9
Mankin, H.10
Mistry, P.K.11
Rosenbloom, B.E.12
Vom Dahl, S.13
Zimran, A.14
-
29
-
-
51449114507
-
Lipid composition of microdomains is altered in a cell model of Gaucher disease
-
Hein LK, Duplock S, Hopwood JJ, Fuller M. Lipid composition of microdomains is altered in a cell model of Gaucher disease. J Lipid Res. 2008;49:1725-34.
-
(2008)
J Lipid Res.
, vol.49
, pp. 1725-1734
-
-
Hein, L.K.1
Duplock, S.2
Hopwood, J.J.3
Fuller, M.4
-
30
-
-
80054841258
-
Elevated plasma glucosylsphingosine in Gaucher disease: Relation to phenotype, storage cell markers, and therapeutic response
-
Dekker N, van Dussen L, Hollak CE, Overkleeft H, Scheij S, Ghauharali K, van Breemen MJ, Ferraz MJ, Groener JE, Maas M, Wijburg FA, Speijer D, Tylki-Szymanska A, Mistry PK, Boot RG, Aerts JM. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood. 2011;118:e118-27.
-
(2011)
Blood.
, vol.118
-
-
Dekker, N.1
van Dussen, L.2
Hollak, C.E.3
Overkleeft, H.4
Scheij, S.5
Ghauharali, K.6
van Breemen, M.J.7
Ferraz, M.J.8
Groener, J.E.9
Maas, M.10
Wijburg, F.A.11
Speijer, D.12
Tylki-Szymanska, A.13
Mistry, P.K.14
Boot, R.G.15
Aerts, J.M.16
-
31
-
-
33846994522
-
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2
-
Boot RG, Verhoek M, Donker-Koopman W, Strijland A, van Marle J, Overkleeft HS, Wennekes T, Aerts JM. Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2. The J Biol Chem. 2007;282:1305-12.
-
(2007)
The J Biol Chem.
, vol.282
, pp. 1305-1312
-
-
Boot, R.G.1
Verhoek, M.2
Donker-Koopman, W.3
Strijland, A.4
van Marle, J.5
Overkleeft, H.S.6
Wennekes, T.7
Aerts, J.M.8
-
32
-
-
78650614891
-
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
-
Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Nat Acad Sci U S A. 2010;107:19473-8.
-
(2010)
Proc Nat Acad Sci U S A.
, vol.107
, pp. 19473-19478
-
-
Mistry, P.K.1
Liu, J.2
Yang, M.3
Nottoli, T.4
McGrath, J.5
Jain, D.6
Zhang, K.7
Keutzer, J.8
Chuang, W.L.9
Mehal, W.Z.10
Zhao, H.11
Lin, A.12
Mane, S.13
Liu, X.14
Peng, Y.Z.15
Li, J.H.16
Agrawal, M.17
Zhu, L.L.18
Blair, H.C.19
Robinson, L.J.20
Iqbal, J.21
Sun, L.22
Zaidi, M.23
more..
-
33
-
-
84862544802
-
Gaucher disease gene GBA functions in immune regulation
-
Jun 19
-
Liu J, Halene S, Yang M, Iqbal J, Yang R, Mehal WZ, Chuang WL, Jain D, Yuen T, Sun L, Zaidi M, Mistry PK Gaucher disease gene GBA functions in immune regulation. Proc Natl Acad Sci U S A. 2012 Jun 19;109(25):10018-23.
-
(2012)
Proc Natl Acad Sci U S A.
, vol.109
, Issue.25
, pp. 10018-10023
-
-
Liu, J.1
Halene, S.2
Yang, M.3
Iqbal, J.4
Yang, R.5
Mehal, W.Z.6
Chuang, W.L.7
Jain, D.8
Yuen, T.9
Sun, L.10
Zaidi, M.11
Mistry, P.K.12
-
34
-
-
38549152194
-
Principles of bioactive lipid signalling: Lessons from sphingolipids
-
Hannun YA, Obeid LM. Principles of bioactive lipid signalling: lessons from sphingolipids. Nature Rev Mole Cell Biol. 2008;9:139-50.
-
(2008)
Nature Rev Mole Cell Biol.
, vol.9
, pp. 139-150
-
-
Hannun, Y.A.1
Obeid, L.M.2
-
35
-
-
69449103951
-
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
-
Hulkova H, Ledvinova J, Poupetova H, Kohout A, Malinova V, Elleder M. Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process. J Inher Metab Dis. 2009;32:551-9.
-
(2009)
J Inher Metab Dis.
, vol.32
, pp. 551-559
-
-
Hulkova, H.1
Ledvinova, J.2
Poupetova, H.3
Kohout, A.4
Malinova, V.5
Elleder, M.6
-
36
-
-
77953232359
-
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: Characterizing the biliary phenotype of type 1 Gaucher disease
-
Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. J Inher Metab Dis. 2010;33:291-300.
-
(2010)
J Inher Metab Dis.
, vol.33
, pp. 291-300
-
-
Taddei, T.H.1
Dziura, J.2
Chen, S.3
Yang, R.4
Hyogo, H.5
Sullards, C.6
Cohen, D.E.7
Pastores, G.8
Mistry, P.K.9
-
37
-
-
4344593367
-
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
-
Boven LA, van Meurs M, Boot RG, Mehta A, Boon L, Aerts JM, Laman JD. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol. 2004;122:359-69.
-
(2004)
Am J Clin Pathol.
, vol.122
, pp. 359-369
-
-
Boven, L.A.1
van Meurs, M.2
Boot, R.G.3
Mehta, A.4
Boon, L.5
Aerts, J.M.6
Laman, J.D.7
-
38
-
-
9144222696
-
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: A novel surrogate marker for assessing therapeutic intervention
-
Boot RG, Verhoek M, de Fost M, Hollak CE, Maas M, Bleijlevens B, van Breemen MJ, van Meurs M, Boven LA, Laman JD, Moran MT, Cox TM, Aerts JM. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood. 2004;103:33-9.
-
(2004)
Blood.
, vol.103
, pp. 33-39
-
-
Boot, R.G.1
Verhoek, M.2
de Fost, M.3
Hollak, C.E.4
Maas, M.5
Bleijlevens, B.6
van Breemen, M.J.7
van Meurs, M.8
Boven, L.A.9
Laman, J.D.10
Moran, M.T.11
Cox, T.M.12
Aerts, J.M.13
-
39
-
-
33748541288
-
The biology of the Gaucher cell: The cradle of human chitinases
-
Bussink AP, van Eijk M, Renkema GH, Aerts JM, Boot RG. The biology of the Gaucher cell: the cradle of human chitinases. Int Rev Cytology. 2006;252:71-128.
-
(2006)
Int Rev Cytology.
, vol.252
, pp. 71-128
-
-
Bussink, A.P.1
van Eijk, M.2
Renkema, G.H.3
Aerts, J.M.4
Boot, R.G.5
-
40
-
-
24644469894
-
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
-
Deegan PB, Moran MT, McFarlane I, Schofield JP, Boot RG, Aerts JM, Cox TM. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cell Mole Dis. 2005;35:259-67.
-
(2005)
Blood Cell Mole Dis.
, vol.35
, pp. 259-267
-
-
Deegan, P.B.1
Moran, M.T.2
McFarlane, I.3
Schofield, J.P.4
Boot, R.G.5
Aerts, J.M.6
Cox, T.M.7
-
41
-
-
0024235268
-
Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease
-
Marti GE, Ryan ET, Papadopoulos NM, Filling-Katz M, Barton N, Fleischer TA, Rick M, Gralnick HR. Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease. Am J Hematol. 1988;29:189-94.
-
(1988)
Am J Hematol.
, vol.29
, pp. 189-194
-
-
Marti, G.E.1
Ryan, E.T.2
Papadopoulos, N.M.3
Filling-Katz, M.4
Barton, N.5
Fleischer, T.A.6
Rick, M.7
Gralnick, H.R.8
-
42
-
-
42549170751
-
Immunoglobulin and free light chain abnormalities in Gaucher disease type I: Data from an adult cohort of 63 patients and review of the literature
-
de Fost M, Out TA, de Wilde FA, Tjin EP, Pals ST, van Oers MH, Boot RG, Aerts JF, Maas M, Vom Dahl S, Hollak CE. Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature. Ann Hematol. 2008;87:439-49.
-
(2008)
Ann Hematol.
, vol.87
, pp. 439-449
-
-
de Fost, M.1
Out, T.A.2
de Wilde, F.A.3
Tjin, E.P.4
Pals, S.T.5
van Oers, M.H.6
Boot, R.G.7
Aerts, J.F.8
Maas, M.9
Vom Dahl, S.10
Hollak, C.E.11
-
43
-
-
0031018508
-
Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: Increased release of interleukin-6 and interleukin-10
-
Allen MJ, Myer BJ, Khokher AM, Rushton N, Cox TM. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM: Mon J Assoc Physician. 1997;90:19-25.
-
(1997)
QJM: Mon J Assoc Physician.
, vol.90
, pp. 19-25
-
-
Allen, M.J.1
Myer, B.J.2
Khokher, A.M.3
Rushton, N.4
Cox, T.M.5
-
44
-
-
0032805835
-
Cytokines in Gaucher's disease
-
Barak V, Acker M, Nisman B, Kalickman I, Abrahamov A, Zimran A, Yatziv S. Cytokines in Gaucher's disease. Eur Cytokine Net. 1999;10:205-10.
-
(1999)
Eur Cytokine Net.
, vol.10
, pp. 205-210
-
-
Barak, V.1
Acker, M.2
Nisman, B.3
Kalickman, I.4
Abrahamov, A.5
Zimran, A.6
Yatziv, S.7
-
45
-
-
0030590912
-
Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease
-
Michelakakis H, Spanou C, Kondyli A, Dimitriou E, Van Weely S, Hollak CE, Van Oers MH, Aerts JM. Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease. Biochim Biophys Acta. 1997;1317(3):219-22.
-
(1997)
Biochim Biophys Acta.
, vol.1317
, Issue.3
, pp. 219-222
-
-
Michelakakis, H.1
Spanou, C.2
Kondyli, A.3
Dimitriou, E.4
van Weely, S.5
Hollak, C.E.6
van Oers, M.H.7
Aerts, J.M.8
-
46
-
-
0036251767
-
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage
-
Mizukami H, Mi Y, Wada R, Kono M, Yamashita T, Liu Y, Werth N, Sandhoff R, Sandhoff K, Proia RL. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. J Clin Invest. 2002;109(9):1215-21.
-
(2002)
J Clin Invest.
, vol.109
, Issue.9
, pp. 1215-1221
-
-
Mizukami, H.1
Mi, Y.2
Wada, R.3
Kono, M.4
Yamashita, T.5
Liu, Y.6
Werth, N.7
Sandhoff, R.8
Sandhoff, K.9
Proia, R.L.10
-
47
-
-
0033061572
-
T cell numbers relate to bone involvement in Gaucher disease
-
Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. T cell numbers relate to bone involvement in Gaucher disease. Blood Cell Mole Dis. 1999;25:130-8.
-
(1999)
Blood Cell Mole Dis.
, vol.25
, pp. 130-138
-
-
Lacerda, L.1
Arosa, F.A.2
Lacerda, R.3
Cabeda, J.4
Porto, G.5
Amaral, O.6
Fortuna, A.7
Pinto, R.8
Oliveira, P.9
McLaren, C.E.10
Sá Miranda, C.11
de Sousa, M.12
-
48
-
-
77952541606
-
Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness
-
Balreira A, Cavallari M, Sa Miranda MC, Arosa FA. Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness. Immunobiology. 2010;215:505-13.
-
(2010)
Immunobiology.
, vol.215
, pp. 505-513
-
-
Balreira, A.1
Cavallari, M.2
Sa Miranda, M.C.3
Arosa, F.A.4
-
49
-
-
33645293202
-
Dendritic cells in patients with type I Gaucher disease are decreased in number but functionally normal
-
Micheva I, Marinakis T, Repa C, Kouraklis-Symeonidis A, Vlacha V, Anagnostopoulos N, Zoumbos N, Symeonidis A. Dendritic cells in patients with type I Gaucher disease are decreased in number but functionally normal. Blood Cell Mole Dis. 2006;36:298-307.
-
(2006)
Blood Cell Mole Dis.
, vol.36
, pp. 298-307
-
-
Micheva, I.1
Marinakis, T.2
Repa, C.3
Kouraklis-Symeonidis, A.4
Vlacha, V.5
Anagnostopoulos, N.6
Zoumbos, N.7
Symeonidis, A.8
-
50
-
-
0021812883
-
Interaction between a serum factor and T lymphocytes in Gaucher disease
-
Bassan R, Montanelli A, Barbui T. Interaction between a serum factor and T lymphocytes in Gaucher disease. Am J Hematol. 1985;18:381-4.
-
(1985)
Am J Hematol.
, vol.18
, pp. 381-384
-
-
Bassan, R.1
Montanelli, A.2
Barbui, T.3
-
51
-
-
77954910427
-
Hyperferritinemia and iron overload in type 1 Gaucher disease
-
Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. Am J Hematol. 2010;85:472-6.
-
(2010)
Am J Hematol.
, vol.85
, pp. 472-476
-
-
Stein, P.1
Yu, H.2
Jain, D.3
Mistry, P.K.4
-
52
-
-
0033911997
-
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
-
Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Human Gen. 2000;66:1777-86.
-
(2000)
Am J Human Gen.
, vol.66
, pp. 1777-1786
-
-
Koprivica, V.1
Stone, D.L.2
Park, J.K.3
Callahan, M.4
Frisch, A.5
Cohen, I.J.6
Tayebi, N.7
Sidransky, E.8
-
54
-
-
78650809398
-
A monozygotic twin pair with highly discordant Gaucher phenotypes
-
Biegstraaten M, van Schaik IN, Aerts JM, Langeveld M, Mannens MM, Bour LJ, Sidransky E, Tayebi N, Fitzgibbon E, Hollak CE. A monozygotic twin pair with highly discordant Gaucher phenotypes. Blood Cell Mole Dis. 2011;46:39-41.
-
(2011)
Blood Cell Mole Dis.
, vol.46
, pp. 39-41
-
-
Biegstraaten, M.1
van Schaik, I.N.2
Aerts, J.M.3
Langeveld, M.4
Mannens, M.M.5
Bour, L.J.6
Sidransky, E.7
Tayebi, N.8
Fitzgibbon, E.9
Hollak, C.E.10
-
56
-
-
0027263071
-
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans
-
Beutler E. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Nat Acad Sci U S A. 1993;90:5384-90.
-
(1993)
Proc Nat Acad Sci U S A.
, vol.90
, pp. 5384-5390
-
-
Beutler, E.1
-
57
-
-
78650750313
-
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl
-
Lu J, Chiang J, Iyer RR, Thompson E, Kaneski CR, Xu DS, Yang C, Chen M, Hodes RJ, Lonser RR, Brady RO, Zhuang Z. Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. Proc Natl Acad Sci U S A. 2010;107(50):21665-70.
-
(2010)
Proc Natl Acad Sci U S A.
, vol.107
, Issue.50
, pp. 21665-21670
-
-
Lu, J.1
Chiang, J.2
Iyer, R.R.3
Thompson, E.4
Kaneski, C.R.5
Xu, D.S.6
Yang, C.7
Chen, M.8
Hodes, R.J.9
Lonser, R.R.10
Brady, R.O.11
Zhuang, Z.12
-
58
-
-
78650846536
-
Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease
-
Lieblich M, Altarescu G, Zimran A, Elstein D. Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease. Blood Cell Mole Dis. 2011;46:92-4.
-
(2011)
Blood Cell Mole Dis.
, vol.46
, pp. 92-94
-
-
Lieblich, M.1
Altarescu, G.2
Zimran, A.3
Elstein, D.4
-
59
-
-
84862776523
-
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation in Gaucher disease
-
Philip Stein, Clarence Zhang, Jun Liu, Gregory M Pastores, Zuoheng Wang, Ruhua Yang, Judy Cho, Peter Gregersen, Hongyu Zhao, Pramod K. Mistry. Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation in Gaucher disease. Am J Hematol. 2012. 87:377-83.
-
(2012)
Am J Hematol.
, vol.87
, pp. 377-383
-
-
Stein, P.1
Zhang, C.2
Liu, J.3
Pastores, G.M.4
Wang, Z.5
Yang, R.6
Cho, J.7
Gregersen, P.8
Zhao, H.9
Mistry, P.K.10
-
60
-
-
0026465017
-
Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients
-
Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, Beutler E. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine. 1992;71:337-53.
-
(1992)
Medicine.
, vol.71
, pp. 337-353
-
-
Zimran, A.1
Kay, A.2
Gelbart, T.3
Garver, P.4
Thurston, D.5
Saven, A.6
Beutler, E.7
-
61
-
-
75649128684
-
A validated disease severity scoring system for adults with type 1 Gaucher disease
-
Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A. A validated disease severity scoring system for adults with type 1 Gaucher disease. Gen Med. 2010;12: 44-51.
-
(2010)
Gen Med.
, vol.12
, pp. 44-51
-
-
Weinreb, N.J.1
Cappellini, M.D.2
Cox, T.M.3
Giannini, E.H.4
Grabowski, G.A.5
Hwu, W.L.6
Mankin, H.7
Martins, A.M.8
Sawyer, C.9
vom Dahl, S.10
Yeh, M.S.11
Zimran, A.12
-
62
-
-
15244348524
-
Gaucher disease and parkinsonism
-
Sidransky E. Gaucher disease and parkinsonism. Mole Gen Metab. 2005;84:302-4.
-
(2005)
Mole Gen Metab.
, vol.84
, pp. 302-324
-
-
Sidransky, E.1
-
63
-
-
0026016620
-
A 27-year experience with splenectomy for Gaucher's disease
-
Fleshner PR, Aufses AH, Jr., Grabowski GA, Elias R. A 27-year experience with splenectomy for Gaucher's disease. Am J Surg. 1991;161:69-75.
-
(1991)
Am J Surg.
, vol.161
, pp. 69-75
-
-
Fleshner, P.R.1
Aufses Jr., A.H.2
Grabowski, G.A.3
Elias, R.4
-
64
-
-
56749172489
-
Life expectancy in Gaucher disease type 1
-
Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008;83:896-900.
-
(2008)
Am J Hematol.
, vol.83
, pp. 896-900
-
-
Weinreb, N.J.1
Deegan, P.2
Kacena, K.A.3
Mistry, P.4
Pastores, G.M.5
Velentgas, P.6
vom Dahl, S.7
-
65
-
-
0028813449
-
Cancer risk after splenectomy
-
Mellemkjoer L, Olsen JH, Linet MS, Gridley G, McLaughlin JK. Cancer risk after splenectomy. Cancer. 1995;75:577-83.
-
(1995)
Cancer.
, vol.75
, pp. 577-583
-
-
Mellemkjoer, L.1
Olsen, J.H.2
Linet, M.S.3
Gridley, G.4
McLaughlin, J.K.5
-
66
-
-
0033560130
-
Chemotherapy by slowing glucosphingolipid synthesis
-
Radin NS. Chemotherapy by slowing glucosphingolipid synthesis. Biochem Pharmacol. 1999;57:589-95.
-
(1999)
Biochem Pharmacol.
, vol.57
, pp. 589-595
-
-
Radin, N.S.1
-
68
-
-
77957605619
-
Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases
-
Cox TM. Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Curr Opin Investig Drugs. 2010;11:1169-81.
-
(2010)
Curr Opin Investig Drugs.
, vol.11
, pp. 1169-1181
-
-
Cox, T.M.1
-
69
-
-
84861217290
-
Phenotypic diversity in type 1 Gaucher disease: Discovering the Genetic Basis of Gaucher disease/hematological malignancy phenotype by whole exome capture and massively parallel sequencing
-
2012 May 17
-
Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer G, Mane S, Lifton RP, Mistry PK. (2012) Phenotypic diversity in type 1 Gaucher disease: Discovering the Genetic Basis of Gaucher disease/hematological malignancy phenotype by whole exome capture and massively parallel sequencing. Blood, 2012 May 17;119(20):4731-40.
-
(2012)
Blood
, vol.119
, Issue.20
, pp. 4731-4740
-
-
Lo, S.M.1
Choi, M.2
Liu, J.3
Jain, D.4
Boot, R.G.5
Kallemeijn, W.W.6
Aerts, J.M.7
Pashankar, F.8
Kupfer, G.9
Mane, S.10
Lifton, R.P.11
Mistry, P.K.12
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