-
1
-
-
0000216808
-
Gaucher disease
-
Scriver, C.R.; Beudet,A.L.; Sly, W.S., Eds. McGraw-Hill: New York
-
Beutler, E.; Grabowski, G.A. Gaucher disease. In: The Metabolicand Molecular Basis of Inherited Disease; Scriver, C.R.; Beudet,A.L.; Sly, W.S., Eds. McGraw-Hill: New York, 2001, pp. 3635-3668.
-
(2001)
The Metabolicand Molecular Basis of Inherited Disease
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
0026409528
-
Norrbottnian type of Gaucher disease-Clinical, biochemicaland molecular biology aspects: Successful treatment with bonemarrow transplantation
-
Svennerholm, L.; Erikson, A.; Groth, C.G.; Ringdén, O.; Månsson, J. E. Norrbottnian type of Gaucher disease-Clinical, biochemicaland molecular biology aspects: Successful treatment with bonemarrow transplantation. Dev. Neurosci., 1991, 13,345-349.
-
(1991)
Dev. Neurosci
, vol.13
, pp. 345-349
-
-
Svennerholm, L.1
Erikson, A.2
Groth, C.G.3
Ringdén, O.4
Månsson, J.E.5
-
3
-
-
0029144034
-
Gaucher's disease variant characterized by progressive calcificationof heart valves and unique genotype
-
Abrahamov, A.; Elstein, D.; Gross-Tsur, V. Farber, B.; Glaser, Y.; Hadas-Halpern, I.; Ronen, S.; Tafakjdi, M.; Horowitz, M.; Zimran, A. Gaucher's disease variant characterized by progressive calcificationof heart valves and unique genotype. Lancet, 1995, 346, 1000-1003.
-
(1995)
Lancet
, vol.346
, pp. 1000-1003
-
-
Abrahamov, A.1
Elstein, D.2
Gross-Tsur, V.3
Farber, B.4
Glaser, Y.5
Hadas-Halpern, I.6
Ronen, S.7
Tafakjdi, M.8
Horowitz, M.9
Zimran, A.10
-
4
-
-
85055497206
-
Gaucher Disease: Epidemiologyand screening policy
-
edited by Futerman, A. H.; Zimran. Eds., CRC Press, Florida
-
Meikle, P.J.; Fuller, M.; Hopwood, J. J. Gaucher Disease: Epidemiologyand screening policy. In: Gaucher Disease, edited by Futerman, A. H.; Zimran. Eds., CRC Press, Florida, 2007, pp. 321.
-
(2007)
Gaucher Disease
, pp. 321
-
-
Meikle, P.J.1
Fuller, M.2
Hopwood, J.J.3
-
5
-
-
50549198437
-
Metabolism of glucocerebrosides:II. Evidence of an enzymatic deficiency in Gaucher's disease
-
Brady, R.O.; Kanfer, J.N.; Shapiro, D. Metabolism of glucocerebrosides:II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem. Biophys. Res. Commun., 1965, 18, 221-232.
-
(1965)
Biochem. Biophys. Res. Commun
, vol.18
, pp. 221-232
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
6
-
-
0001973683
-
Short communications: A deficiency of glucocerebrosidasein
-
Patrick, A.D. Short communications: A deficiency of glucocerebrosidasein Gaucher's disease. Biochem. J., 1965, 97,17C.
-
(1965)
Gaucher's Disease. Biochem. J
, vol.97
-
-
Patrick, A.D.1
-
7
-
-
42949118684
-
Gaucherdisease: Mutation and polymorphism spectrum in the glucocerebrosidasegene (GBA)
-
Hruska, K.S.; LaMarca, M.E.; Scott, C.R.; Sidransky, E. Gaucherdisease: mutation and polymorphism spectrum in the glucocerebrosidasegene (GBA). Hum. Mutat., 2008, 29(5), 567-583.
-
(2008)
Hum. Mutat
, vol.29
, Issue.5
, pp. 567-583
-
-
Hruska, K.S.1
Lamarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
8
-
-
27844605147
-
Divergent phenotypesin Gaucher disease implicate the role of modifiers
-
Goker-Alpan, O.; Hruska, K.S.; Orvisky, E.; Kishnani, P.S.; Stubblefield, B.K.; Schiffmann, R.; Sidransky, E. Divergent phenotypesin Gaucher disease implicate the role of modifiers. J. Med.Genet., 2005, 42(6), 37.
-
(2005)
J. Med.Genet
, vol.42
, Issue.6
, pp. 37
-
-
Goker-Alpan, O.1
Hruska, K.S.2
Orvisky, E.3
Kishnani, P.S.4
Stubblefield, B.K.5
Schiffmann, R.6
Sidransky, E.7
-
9
-
-
0032248994
-
Asymptomatic Gaucher disease implications for large-scale screening
-
Azuri, J.; Elstein, D.; Lahad, A.; Abrahamov, A.; Hadas-Halpern, I.; Zimran, A. Asymptomatic Gaucher disease implications for large-scale screening. Genet. Test, 1998, 2, 297-299.
-
(1998)
Genet. Test
, vol.2
, pp. 297-299
-
-
Azuri, J.1
Elstein, D.2
Lahad, A.3
Abrahamov, A.4
Hadas-Halpern, I.5
Zimran, A.6
-
10
-
-
57649224266
-
Phenotypic heterogeneity of N370S homozygoteswith type I Gaucher disease: An analysis of 798 patients fromthe ICGG Gaucher Registry
-
Fairley, C.; Zimran, A.; Phillips, M.; Cizmarik, M.; Yee, J.; Weinreb, N.; Packman, S. Phenotypic heterogeneity of N370S homozygoteswith type I Gaucher disease: an analysis of 798 patients fromthe ICGG Gaucher Registry. J. Inherit. Metab. Dis., 2008, 31(6),7387-7394.
-
(2008)
J. Inherit. Metab. Dis
, vol.31
, Issue.6
, pp. 7387-7394
-
-
Fairley, C.1
Zimran, A.2
Phillips, M.3
Cizmarik, M.4
Yee, J.5
Weinreb, N.6
Packman, S.7
-
11
-
-
33744957572
-
The clinicaland demographic characteristics of nonneuronopathic Gaucher diseasein 887 children at diagnosis
-
Kaplan, P.; Andersson, H.C.; Kacena, K.A.; Yee, J.D. The clinicaland demographic characteristics of nonneuronopathic Gaucher diseasein 887 children at diagnosis. Arch. Pediatr. Adolesc. Med.,2006,160, 603-608.
-
(2006)
Arch. Pediatr. Adolesc. Med
, vol.160
, pp. 603-608
-
-
Kaplan, P.1
Andersson, H.C.2
Kacena, K.A.3
Yee, J.D.4
-
12
-
-
0022410240
-
Skeletalcomplications of Gaucher's disease
-
Stowens, D.W.; Teitelbaum, S.L.; Kahn, A.J.; Barranger, J. Skeletalcomplications of Gaucher's disease. Medicine, 1985, 64, 310-322.
-
(1985)
Medicine
, vol.64
, pp. 310-322
-
-
Stowens, D.W.1
Teitelbaum, S.L.2
Kahn, A.J.3
Barranger, J.4
-
13
-
-
0022998276
-
Gaucher's disease type 1: Assessment ofbone involvement by CT and scintigraphy
-
Hermann, G.; Goldblatt, J.; Levy, R.N.; Goldsmith, S.J.; Desnick, R.J.; Grabowski, G.A. Gaucher's disease type 1: assessment ofbone involvement by CT and scintigraphy. Am. J. Roentgenol.,1986, 147, 943-948.
-
(1986)
Am. J. Roentgenol
, vol.147
, pp. 943-948
-
-
Hermann, G.1
Goldblatt, J.2
Levy, R.N.3
Goldsmith, S.J.4
Desnick, R.J.5
Grabowski, G.A.6
-
14
-
-
0036783707
-
Quantification of skeletal involvement in adultswith type I Gaucher's disease: Fat fraction measured by Dixonquantitative chemical shift imaging as a valid parameter
-
Maas, M.; Hollak, C.E.; Akkerman, E.M.; Aerts, J.M.; Stoker, J.; Den Heeten, G.J. Quantification of skeletal involvement in adultswith type I Gaucher's disease: fat fraction measured by Dixonquantitative chemical shift imaging as a valid parameter. AJR. Am.J. Roentgenol., 2002, 179(4), 961-965.
-
(2002)
AJR. Am.J. Roentgenol
, vol.179
, Issue.4
, pp. 961-965
-
-
Maas, M.1
Hollak, C.E.2
Akkerman, E.M.3
Aerts, J.M.4
Stoker, J.5
den Heeten, G.J.6
-
15
-
-
0029773625
-
Occurrence of Parkinson's syndrome in type I Gaucher disease
-
Neudorfer, O.; Giladi, N.; Elstein, D.; Abrahamov, A.; Turezkie, T.; Aghai, E.; Reches, A.; Bembi, B.; Zimran, A. Occurrence of Parkinson's syndrome in type I Gaucher disease. Quar, J. Med.,1996, 89,691-694.
-
(1996)
Quar, J. Med
, vol.89
, pp. 691-694
-
-
Neudorfer, O.1
Giladi, N.2
Elstein, D.3
Abrahamov, A.4
Turezkie, T.5
Aghai, E.6
Reches, A.7
Bembi, B.8
Zimran, A.9
-
16
-
-
77953229340
-
The risk of Parkinson's disease in type 1 Gaucher disease
-
Feb 23
-
Bultron, G.; Kacen K.; Pearson, D.; Boxer, M.; Yang, R.; Sathe, S.; Pastores, G.; Mistry, P.K. The risk of Parkinson's disease in type 1 Gaucher disease. J. Inherit. Metab. Dis., 2010 Feb 23.
-
(2010)
J. Inherit. Metab. Dis
-
-
Bultron, G.1
Kacen, K.2
Pearson, D.3
Boxer, M.4
Yang, R.5
Sathe, S.6
Pastores, G.7
Mistry, P.K.8
-
17
-
-
56349122490
-
Musculoskeletal complications encountered in thelysosomal storage disorders
-
Pastores, G.M. Musculoskeletal complications encountered in thelysosomal storage disorders. Best Pract. Res. Clin. Rheumatol.,2008, 22(5), 937-947.
-
(2008)
Best Pract. Res. Clin. Rheumatol
, vol.22
, Issue.5
, pp. 937-947
-
-
Pastores, G.M.1
-
18
-
-
45849136270
-
'Nonneuronopathic'Gaucher disease reconsidered. Prevalence of neurologicalmanifestations in a Dutch cohort of type I Gaucher diseasepatients and a systematic review of the literature
-
Biegstraaten, M.; van Schaik, I.N.; Aerts, J.M.; Hollak, C.E. 'Nonneuronopathic'Gaucher disease reconsidered. Prevalence of neurologicalmanifestations in a Dutch cohort of type I Gaucher diseasepatients and a systematic review of the literature. J. Inherit. Metab.Dis., 2008, 31(3), 337-349.
-
(2008)
J. Inherit. Metab.Dis
, vol.31
, Issue.3
, pp. 337-349
-
-
Biegstraaten, M.1
van Schaik, I.N.2
Aerts, J.M.3
Hollak, C.E.4
-
19
-
-
0027444631
-
The role of neurogeneticsin Gaucher disease
-
Brady, R.O.; Barton, N.W.; Grabowski, G.A. The role of neurogeneticsin Gaucher disease. Arch. Neurol., 1993, 50, 1212-1218.
-
(1993)
Arch. Neurol
, vol.50
, pp. 1212-1218
-
-
Brady, R.O.1
Barton, N.W.2
Grabowski, G.A.3
-
20
-
-
0026451024
-
Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningealfibrous thickening in adult siblings: A new syndrome associatedwith beta-glucocerebrosidase deficiency and a mosaic populationof storage cells
-
Uyama, E.; Takahashi, K.; Owada, M.; Okamura, R.; Naito, M.; Tsuji, S.; Kawasaki, S.; Araki, S. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningealfibrous thickening in adult siblings: A new syndrome associatedwith beta-glucocerebrosidase deficiency and a mosaic populationof storage cells. Acta Neurol. Scand., 1992, 86, 407-411.
-
(1992)
Acta Neurol. Scand
, vol.86
, pp. 407-411
-
-
Uyama, E.1
Takahashi, K.2
Owada, M.3
Okamura, R.4
Naito, M.5
Tsuji, S.6
Kawasaki, S.7
Araki, S.8
-
21
-
-
0029076238
-
Unusual expression of Gaucher's disease: Cardiovascularcalcifications in three sibs homozygous for the D409H mutation
-
Chabas, A.; Cormand, B.; Grinberg, D.; Burguera, J.M.; Balcells, S.; Merino, J.L.; Mate, I.; Sobrino, J.A.; Gonzàlez-Duarte, R.; Vilageliu, L. Unusual expression of Gaucher's disease: Cardiovascularcalcifications in three sibs homozygous for the D409H mutation. J. Med. Genet., 1995, 32, 740-746.
-
(1995)
J. Med. Genet
, vol.32
, pp. 740-746
-
-
Chabas, A.1
Cormand, B.2
Grinberg, D.3
Burguera, J.M.4
Balcells, S.5
Merino, J.L.6
Mate, I.7
Sobrino, J.A.8
Gonzàlez-Duarte, R.9
Vilageliu, L.10
-
22
-
-
0042354624
-
X-ray structure of human acid-betaglucosidase,the defective enzyme in Gaucher disease
-
Dvir, H.; Harel, M.; McCarthy, A.A.; Toker, L.; Silman, I.; Futerman, A.H.; Sussman, J.L. X-ray structure of human acid-betaglucosidase,the defective enzyme in Gaucher disease. EMBO Rep.,2003, 4, 704-714.
-
(2003)
EMBO Rep
, vol.4
, pp. 704-714
-
-
Dvir, H.1
Harel, M.2
McCarthy, A.A.3
Toker, L.4
Silman, I.5
Futerman, A.H.6
Sussman, J.L.7
-
23
-
-
0014882816
-
The diagnosis of the adult type of Gaucher'sdisease and its carrier state by demonstration of deficiency of betaglucosidaseactivity in peripheral blood leukocytes
-
Beutler, E.; Kuhl, W. The diagnosis of the adult type of Gaucher'sdisease and its carrier state by demonstration of deficiency of betaglucosidaseactivity in peripheral blood leukocytes. J. Lab. Clin.Med., 1970, 76, 747-751.
-
(1970)
J. Lab. Clin.Med
, vol.76
, pp. 747-751
-
-
Beutler, E.1
Kuhl, W.2
-
24
-
-
0037232675
-
Fluorescent flow cytometric assay: A new diagnostic tool formeasuring beta-glucocerebrosidase activity in Gaucher disease
-
Rudensky, B.; Paz, E.; Altarescu, G.; Raveh, D.; Elstein, D.; Zimran, A. Fluorescent flow cytometric assay: a new diagnostic tool formeasuring beta-glucocerebrosidase activity in Gaucher disease. Blood Cells Mol. Dis., 2003, 30, 97-100.
-
(2003)
Blood Cells Mol. Dis
, vol.30
, pp. 97-100
-
-
Rudensky, B.1
Paz, E.2
Altarescu, G.3
Raveh, D.4
Elstein, D.5
Zimran, A.6
-
25
-
-
0000436145
-
From cytases to lysosomes
-
DeDuve, C. From cytases to lysosomes. Fed. Proc., 1964, 23,1045-1049
-
(1964)
Fed. Proc
, vol.23
, pp. 1045-1049
-
-
Deduve, C.1
-
26
-
-
0014012410
-
The sphingolipidoses
-
Brady, R.O. The sphingolipidoses. N. Engl. J. Med., 1966, 275(6),312-318.
-
(1966)
N. Engl. J. Med
, vol.275
, Issue.6
, pp. 312-318
-
-
Brady, R.O.1
-
27
-
-
0025869216
-
Replacement therapy for inheritedenzyme deficiency-Macrophage-targeted glucocerebrosidase forGaucher's disease
-
and collaborators
-
Barton, N.W.; Brady, R.O.; Dambrosia, J.M.; Di Bisceglie, A.M.; Doppelt, S.H.; Hill, S.C.; Mankin, H.J.; Murray, G.J.; Parker, R.I.; Argoff, C.E.; and collaborators. Replacement therapy for inheritedenzyme deficiency-Macrophage-targeted glucocerebrosidase forGaucher's disease. N. Engl. J. Med., 1991, 324, 1464-1468.
-
(1991)
N. Engl. J. Med
, vol.324
, pp. 1464-1468
-
-
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
-
28
-
-
0028883136
-
Enzyme therapy in type 1 Gaucher disease: Comparativeefficacy of mannose-terminated glucocerebrosidase fromnatural and recombinant sources
-
Grabowski, G.A.; Barton, N.W.; Pastores, G.; Dambrosia, J.M.; Banerjee, T.K.; McKee, M.A.; Parker, C.; Schiffmann, R.; Hill, S.C.; Brady, R.O. Enzyme therapy in type 1 Gaucher disease: comparativeefficacy of mannose-terminated glucocerebrosidase fromnatural and recombinant sources. Ann. Intern. Med., 1995, 122, 33-37.
-
(1995)
Ann. Intern. Med
, vol.122
, pp. 33-37
-
-
Grabowski, G.A.1
Barton, N.W.2
Pastores, G.3
Dambrosia, J.M.4
Banerjee, T.K.5
McKee, M.A.6
Parker, C.7
Schiffmann, R.8
Hill, S.C.9
Brady, R.O.10
-
29
-
-
0029029221
-
Replacementtherapy with imiglucerase for type 1 Gaucher's disease
-
Zimran, A.; Elstein, D.; Levy-Lahad, E.; Zevin, S.; Hadas-Halpern, I.; Bar-Ziv, Y.; Foldes, J.; Schwartz, A.J; Abrahamov, A. Replacementtherapy with imiglucerase for type 1 Gaucher's disease. Lancet,1995, 34, 1479-1480.
-
(1995)
Lancet
, vol.34
, pp. 1479-1480
-
-
Zimran, A.1
Elstein, D.2
Levy-Lahad, E.3
Zevin, S.4
Hadas-Halpern, I.5
Bar-Ziv, Y.6
Foldes, J.7
Schwartz, A.J.8
Abrahamov, A.9
-
30
-
-
0037159549
-
Effectiveness of enzyme replacementtherapy in 1028 patients with type 1 Gaucher disease after 2 to 5years of treatment: A report from the Gaucher Registry
-
Weinreb, N.J.; Charrow, J.; Andersson, H.C.; Kaplan, P.; Kolodny, E.H.; Mistry, P.; Pastores, G.; Rosenbloom, B.E.; Scott, C.R.; Wappner, R.S.; Zimran, A. Effectiveness of enzyme replacementtherapy in 1028 patients with type 1 Gaucher disease after 2 to 5years of treatment: a report from the Gaucher Registry. Am. J.Med., 2002, 113, 112-118.
-
(2002)
Am. J. Med
, vol.113
, pp. 112-118
-
-
Weinreb, N.J.1
Charrow, J.2
Andersson, H.C.3
Kaplan, P.4
Kolodny, E.H.5
Mistry, P.6
Pastores, G.7
Rosenbloom, B.E.8
Scott, C.R.9
Wappner, R.S.10
Zimran, A.11
-
31
-
-
32944476769
-
Enzyme replacement for lysosomal diseases
-
Brady, R.O. Enzyme replacement for lysosomal diseases. Annu.Rev. Med., 2006, 57, 283-284.
-
(2006)
Annu. Rev. Med
, vol.57
, pp. 283-284
-
-
Brady, R.O.1
-
32
-
-
77951086060
-
Enzyme replacement therapyfor type I Gaucher disease
-
edited by Futerman,A.H.; Zimran, A. CRC Press, Florida
-
Zimran, A.; Bembi, B.; Pastores, G. Enzyme replacement therapyfor type I Gaucher disease. In: Gaucher disease, edited by Futerman,A.H.; Zimran, A. CRC Press, Florida, 2007, pp.341.
-
(2007)
Gaucher Disease
, pp. 341
-
-
Zimran, A.1
Bembi, B.2
Pastores, G.3
-
33
-
-
62149099925
-
Doseresponserelationships for enzyme replacement therapy withimiglucerase/alglucerase in patients with Gaucher disease type 1
-
Grabowski, G.A.; Kacena, K.; Cole, J.A.; Hollak, C.E.; Zhang, L.; Yee, J.; Mistry, P.K.; Zimran, A.; Charrow, J.; vom Dahl, S. Doseresponserelationships for enzyme replacement therapy withimiglucerase/alglucerase in patients with Gaucher disease type 1.Genet. Med., 2009, 11, 92-99.
-
(2009)
Genet. Med
, vol.11
, pp. 92-99
-
-
Grabowski, G.A.1
Kacena, K.2
Cole, J.A.3
Hollak, C.E.4
Zhang, L.5
Yee, J.6
Mistry, P.K.7
Zimran, A.8
Charrow, J.9
vom Dahl, S.10
-
34
-
-
0034626360
-
The Gaucher registry: Demographics anddisease characteristics of 1698 patients with Gaucher disease
-
Charrow, J.; Andersson, H.C.; Kaplan, P.; Kolodny, E.H.; Mistry, P.; Pastores, G.; Rosenbloom, B.E.; Scott, C.R.; Wappner, R.S.; Weinreb, N.J.; Zimran, A. The Gaucher registry: demographics anddisease characteristics of 1698 patients with Gaucher disease. Arch.Intern. Med., 2000, 160(18), 2835-2843.
-
(2000)
Arch.Intern. Med
, vol.160
, Issue.18
, pp. 2835-2843
-
-
Charrow, J.1
Andersson, H.C.2
Kaplan, P.3
Kolodny, E.H.4
Mistry, P.5
Pastores, G.6
Rosenbloom, B.E.7
Scott, C.R.8
Wappner, R.S.9
Weinreb, N.J.10
Zimran, A.11
-
35
-
-
16644362204
-
Advances in Gaucher disease: Therapeutic goals andevaluation and monitoring guidelines
-
Weinreb, N. J. Advances in Gaucher disease: Therapeutic goals andevaluation and monitoring guidelines. Semin. Hematol., 2004, 41 (4Suppl 5),1-3.
-
(2004)
Semin. Hematol
, vol.41
, Issue.4 SUPPL. 5
, pp. 1-3
-
-
Weinreb, N.J.1
-
36
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
Pastores, G. M.; Weinreb, N. J.; Aerts, H.; Andria, G.; Cox, T. M.; Giralt, M.; Grabowski, G. A.; Mistry, P. K.; Tylki-Szymańska, A. Therapeutic goals in the treatment of Gaucher disease. Semin. Hematol.,2004, 41(4 Suppl 5),4-14.
-
(2004)
Semin. Hematol
, vol.41
, Issue.4 SUPPL. 5
, pp. 4-14
-
-
Pastores, G.M.1
Weinreb, N.J.2
Aerts, H.3
Andria, G.4
Cox, T.M.5
Giralt, M.6
Grabowski, G.A.7
Mistry, P.K.8
Tylki-Szymańska, A.9
-
37
-
-
56749130566
-
A benchmarkanalysis of the achievement of therapeutic goals for type 1Gaucher disease patients treated with imiglucerase
-
Weinreb, N.; Taylor, J.; Cox, T.; Yee, J.; vom Dahl, S. A benchmarkanalysis of the achievement of therapeutic goals for type 1Gaucher disease patients treated with imiglucerase. Amer. J. Hematol.,2008, 83(12), 890-895.
-
(2008)
Amer. J. Hematol
, vol.83
, Issue.12
, pp. 890-895
-
-
Weinreb, N.1
Taylor, J.2
Cox, T.3
Yee, J.4
vom Dahl, S.5
-
38
-
-
0029155493
-
Enzyme replacement therapyfor Gaucher disease: Skeletal responses to macrophage-targetedglucocerebrosidase
-
and collaborators
-
Rosenthal, D. I.; Doppelt, S. H.; Mankin, H. J.; Dambrosia, J. M.; Xavier, R. J.; McKusick, K. A.; Rosen, B. R.; Baker, J.; Niklason, L.T.; Hill, S. C.; and collaborators. Enzyme replacement therapyfor Gaucher disease: skeletal responses to macrophage-targetedglucocerebrosidase. Pediatrics, 1995, 96(4 Pt 1), 629-637.
-
(1995)
Pediatrics
, vol.96
, Issue.4 PART 1
, pp. 629-637
-
-
Rosenthal, D.I.1
Doppelt, S.H.2
Mankin, H.J.3
Dambrosia, J.M.4
Xavier, R.J.5
McKusick, K.A.6
Rosen, B.R.7
Baker, J.8
Niklason, L.T.9
Hill, S.C.10
-
39
-
-
0036073123
-
Response of Gaucher bone disease toenzyme replacement therapy
-
Poll, L. W.; Maas, M.; Terk, M. R.; Roca-Espiau, M.; Bembi, B.; Ciana, G.; Weinreb, N.J. Response of Gaucher bone disease toenzyme replacement therapy. Br. J. Radiol., 2002, 75 (Suppl) 1,A25-A36.
-
(2002)
Br. J. Radiol
, vol.75
, Issue.SUPPL. 1
-
-
Poll, L.W.1
Maas, M.2
Terk, M.R.3
Roca-Espiau, M.4
Bembi, B.5
Ciana, G.6
Weinreb, N.J.7
-
40
-
-
33745722913
-
Superior effects of high-dose enzyme replacementtherapy in type 1 Gaucher disease on bone marrow involvementand chitotriosidase levels: A 2-center retrospective analysis
-
de Fost, M.; Hollak, C. E.; Groener, J. E.; Aerts, J. M.; Maas, M.; Poll, L.W.; Wiersma, M. G.; Häussinger, D.; Brett, S.; Brill, N.; vom Dahl, S. Superior effects of high-dose enzyme replacementtherapy in type 1 Gaucher disease on bone marrow involvementand chitotriosidase levels: a 2-center retrospective analysis. Blood,2006, 108 (3), 830-835.
-
(2006)
Blood
, vol.108
, Issue.3
, pp. 830-835
-
-
de Fost, M.1
Hollak, C.E.2
Groener, J.E.3
Aerts, J.M.4
Maas, M.5
Poll, L.W.6
Wiersma, M.G.7
Häussinger, D.8
Brett, S.9
Brill, N.10
vom Dahl, S.11
-
41
-
-
0026016620
-
A27-year experience with splenectomy for Gaucher's disease
-
Fleshner, P. R.; Aufses, A. H. Jr.; Grabowski, G. A.; Elias, R. A27-year experience with splenectomy for Gaucher's disease. Am. J. Surg., 1991, 161(1), 69-75.
-
(1991)
Am. J. Surg
, vol.161
, Issue.1
, pp. 69-75
-
-
Fleshner, P.R.1
Aufses Jr., A.H.2
Grabowski, G.A.3
Elias, R.4
-
42
-
-
0028906256
-
Outcome of partial splenectomy for type I Gaucher disease
-
Zimran, A.; Elstein, D.; Schiffmann, R.; Abrahamov, A.; Goldberg, M.; Bar-Maor, J. A.; Brady, R. O.; Guzzetta, P. C.; Barton, N. W. Outcome of partial splenectomy for type I Gaucher disease. J. Pediatr.,1995, 126(4), 596-597.
-
(1995)
J. Pediatr
, vol.126
, Issue.4
, pp. 596-597
-
-
Zimran, A.1
Elstein, D.2
Schiffmann, R.3
Abrahamov, A.4
Goldberg, M.5
Bar-Maor, J.A.6
Brady, R.O.7
Guzzetta, P.C.8
Barton, N.W.9
-
43
-
-
0033843346
-
Children with type I Gaucherdisease: Growing into adulthood with and without enzymetherapy
-
Zimran, A., Abrahamov, A.; Elstein, D. Children with type I Gaucherdisease: growing into adulthood with and without enzymetherapy. Isr. Med. Assoc. J., 2000, 2(2), 80-81.
-
(2000)
Isr. Med. Assoc. J
, vol.2
, Issue.2
, pp. 80-81
-
-
Zimran, A.1
Abrahamov, A.2
Elstein, D.3
-
44
-
-
0036399154
-
Pulmonary hypertensionin type 1 Gaucher's disease: Genetic and epigenetic determinantsof phenotype and response to therapy
-
Mistry, P. K.; Sirrs, S.; Chan, A.; Pritzker, M.R.; Duffy, T. P.; Grace, M. E.; Meeker, D. P.; Goldman, M. E. Pulmonary hypertensionin type 1 Gaucher's disease: genetic and epigenetic determinantsof phenotype and response to therapy. Mol. Genet. Metab.,2002, 77, 91-98.
-
(2002)
Mol. Genet. Metab
, vol.77
, pp. 91-98
-
-
Mistry, P.K.1
Sirrs, S.2
Chan, A.3
Pritzker, M.R.4
Duffy, T.P.5
Grace, M.E.6
Meeker, D.P.7
Goldman, M.E.8
-
45
-
-
0029135190
-
Pathological findingsin Gaucher disease type 2 patients following enzyme therapy
-
Bove, K. E.; Daugherty, C.; Grabowski, G. A. Pathological findingsin Gaucher disease type 2 patients following enzyme therapy. Hum. Pathol., 1995, 26(9), 1040-1045.
-
(1995)
Hum. Pathol
, vol.26
, Issue.9
, pp. 1040-1045
-
-
Bove, K.E.1
Daugherty, C.2
Grabowski, G.A.3
-
46
-
-
37449000781
-
Outcome of type III Gaucher diseaseon enzyme replacement therapy: Review of 55 cases
-
Davies, E. H.; Erikson, A.; Collin-Histed, T.; Mengel, E.; Tylki-Szymanska, A.; Vellodi, A. Outcome of type III Gaucher diseaseon enzyme replacement therapy: review of 55 cases. J. Inherit. Metab. Dis., 2007, 30(6), 935-942.
-
(2007)
J. Inherit. Metab. Dis
, vol.30
, Issue.6
, pp. 935-942
-
-
Davies, E.H.1
Erikson, A.2
Collin-Histed, T.3
Mengel, E.4
Tylki-Szymanska, A.5
Vellodi, A.6
-
47
-
-
0035049241
-
The efficacy of enzymereplacement therapy in patients with chronic neuronopathic Gaucher's disease
-
Altarescu, G.; Hill, S.; Wiggs, E.; Jeffries, N.; Kreps, C.; Parker, C.C.; Brady, R.O.; Barton, N. W.; Schiffmann, R. The efficacy of enzymereplacement therapy in patients with chronic neuronopathic Gaucher's disease. J. Pediatr., 2001, 138, 539-545.
-
(2001)
J. Pediatr
, vol.138
, pp. 539-545
-
-
Altarescu, G.1
Hill, S.2
Wiggs, E.3
Jeffries, N.4
Kreps, C.5
Parker, C.C.6
Brady, R.O.7
Barton, N.W.8
Schiffmann, R.9
-
48
-
-
37449014195
-
No justification for very high-dose enzymetherapy for patients with type III Gaucher disease
-
Zimran, A.; Elstein, D. No justification for very high-dose enzymetherapy for patients with type III Gaucher disease. J. Inherit. Metab.Dis., 2007, 30, 843-844.
-
(2007)
J. Inherit. Metab.Dis
, vol.30
, pp. 843-844
-
-
Zimran, A.1
Elstein, D.2
-
49
-
-
33846197993
-
The long-term international safety experience of imiglucerase therapyfor Gaucher disease
-
Starzyk, K.; Richards, S.; Yee, J.; Smith, S. E.; Kingma, W. The long-term international safety experience of imiglucerase therapyfor Gaucher disease. Mol. Genet. Metab., 2007, 90, 157-161.
-
(2007)
Mol. Genet. Metab
, vol.90
, pp. 157-161
-
-
Starzyk, K.1
Richards, S.2
Yee, J.3
Smith, S.E.4
Kingma, W.5
-
50
-
-
0037236572
-
Enzyme therapy ofgaucher disease: Clinical and biochemical changes during productionof and tolerization for neutralizing antibodies
-
Zhao, H.; Bailey, L. A.; Grabowski, G. A. Enzyme therapy ofgaucher disease: clinical and biochemical changes during productionof and tolerization for neutralizing antibodies. Blood, Cells Mol. Dis., 2003, 30(1), 90-96.
-
(2003)
Blood, Cells Mol. Dis
, vol.30
, Issue.1
, pp. 90-96
-
-
Zhao, H.1
Bailey, L.A.2
Grabowski, G.A.3
-
51
-
-
0027199108
-
Home treatment with intravenous enzymereplacement therapy for Gaucher disease: An international collaborativestudy of 33 patients
-
Zimran, A.; Hollak, C. E. M.; Abrahamov, A.; van Oers, M. H.; Kelly, M.; Beutler, E. Home treatment with intravenous enzymereplacement therapy for Gaucher disease: An international collaborativestudy of 33 patients. Blood, 1993, 82,1107-1109.
-
(1993)
Blood
, vol.82
, pp. 1107-1109
-
-
Zimran, A.1
Hollak, C.E.M.2
Abrahamov, A.3
van Oers, M.H.4
Kelly, M.5
Beutler, E.6
-
52
-
-
0031444906
-
Use of enzyme replacement therapyfor Gaucher disease during pregnancy
-
Elstein, D.; Granovsky-Grisaru, S.; Rabinowitz, R.; Kanai, R.; Abrahamov, A.; Zimran, A. Use of enzyme replacement therapyfor Gaucher disease during pregnancy. Am. J. Obstet. Gynecol.,1997, 177, 1509-1512.
-
(1997)
Am. J. Obstet. Gynecol
, vol.177
, pp. 1509-1512
-
-
Elstein, D.1
Granovsky-Grisaru, S.2
Rabinowitz, R.3
Kanai, R.4
Abrahamov, A.5
Zimran, A.6
-
53
-
-
41949110081
-
Overweight, insulin resistance and type II diabetes in type IGaucher disease patients in relation to enzyme replacement therapy
-
Langeveld, M.; de Fost, M.; Aerts, J. M.; Sauerwein, H. P.; Hollak, C. E. Overweight, insulin resistance and type II diabetes in type IGaucher disease patients in relation to enzyme replacement therapy. Blood Cells Mol. Dis., 2008, 40(3), 428-432.
-
(2008)
Blood Cells Mol. Dis
, vol.40
, Issue.3
, pp. 428-432
-
-
Langeveld, M.1
de Fost, M.2
Aerts, J.M.3
Sauerwein, H.P.4
Hollak, C.E.5
-
54
-
-
18844388455
-
Gaucher disease and cancer incidence: Astudy from the Gaucher Registry
-
Rosenbloom, B. E.; Weinreb, N. J.; Zimran, A.; Kacena, K. A.; Charrow, J.; Ward, E. Gaucher disease and cancer incidence: astudy from the Gaucher Registry. Blood, 2005, 105, 4569-4572.
-
(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
-
55
-
-
0032992099
-
Hepatocellular carcinomain a patient with Gaucher disease on enzyme supplementationtherapy
-
Erjavec, Z.; Hollak, C. E.; de Vries, E. G. Hepatocellular carcinomain a patient with Gaucher disease on enzyme supplementationtherapy. Ann. Oncol., 1999, 10(2), 243.
-
(1999)
Ann. Oncol
, vol.10
, Issue.2
, pp. 243
-
-
Erjavec, Z.1
Hollak, C.E.2
de Vries, E.G.3
-
56
-
-
33749003142
-
Glucocerebrosideameliorates the metabolic syndrome in OB/OB mice
-
Margalit, M.; Shalev, Z.; Pappo, O.; Sklair-Levy, M.; Alper, R.; Gomori, M.; Engelhardt, D.; Rabbani, E.; Ilan, Y. Glucocerebrosideameliorates the metabolic syndrome in OB/OB mice. J.Pharmacol. Exp. Ther., 2006, 319, 105-110.
-
(2006)
J.Pharmacol. Exp. Ther
, vol.319
, pp. 105-110
-
-
Margalit, M.1
Shalev, Z.2
Pappo, O.3
Sklair-Levy, M.4
Alper, R.5
Gomori, M.6
Engelhardt, D.7
Rabbani, E.8
Ilan, Y.9
-
57
-
-
33750699634
-
Glycolipids as immune modulatory tools
-
Lalazar, G.; Preston, S.; Zigmond, E.; Ben Yáacov, A.; Ilan, Y. Glycolipids as immune modulatory tools. Mini Rev. Med. Chem.,2006, 6(11), 1249-1253.
-
(2006)
Mini Rev. Med. Chem
, vol.6
, Issue.11
, pp. 1249-1253
-
-
Lalazar, G.1
Preston, S.2
Zigmond, E.3
Ben Yáacov, A.4
Ilan, Y.5
-
58
-
-
70349746923
-
Glucocerebroside: An evolutionaryadvantage for patients with Gaucher disease and a new immunomodulatoryagent
-
Ilan, Y.; Elstein, D.; Zimran, A. Glucocerebroside: an evolutionaryadvantage for patients with Gaucher disease and a new immunomodulatoryagent. Immunol. Cell Biol., 2009, 87(7), 514-524.
-
(2009)
Immunol. Cell Biol
, vol.87
, Issue.7
, pp. 514-524
-
-
Ilan, Y.1
Elstein, D.2
Zimran, A.3
-
59
-
-
34248504877
-
A pharmacokineticanalysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease
-
Zimran, A.; Loveday, K.; Fratazzi, C.; Elstein, D. A pharmacokineticanalysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. Blood Cells Mol. Dis., 2007, 39, 115-117.
-
(2007)
Blood Cells Mol. Dis
, vol.39
, pp. 115-117
-
-
Zimran, A.1
Loveday, K.2
Fratazzi, C.3
Elstein, D.4
-
60
-
-
62849111312
-
A plant-derived recombinant human glucocerebrosidase enzyme--apreclinical and phase I investigation
-
Aviezer, D.; Brill-Almon, E.; Shaaltiel Y.; Hashmueli, S.; Bartfeld, D.; Mizrachi, S.; Liberman, Y.; Freeman, A.; Zimran, A.; Galun, E.A plant-derived recombinant human glucocerebrosidase enzyme--apreclinical and phase I investigation. PLoS ONE, 2009, 4792, 4e.
-
(2009)
PLoS ONE
, vol.4792
-
-
Aviezer, D.1
Brill-Almon, E.2
Shaaltiel, Y.3
Hashmueli, S.4
Bartfeld, D.5
Mizrachi, S.6
Liberman, Y.7
Freeman, A.8
Zimran, A.9
Galun, E.10
-
61
-
-
73049102077
-
Force Majeure:Therapeutic measures in response to restricted supply ofimiglucerase (Cerezyme) for patients with Gaucher disease
-
Hollak, C. E.; vom Dahl, S.; Aerts, J. M., Belmatoug, N.; Bembi, B.; Cohen, Y.; Collin-Histed, T.; Deegan, P.; van Dussen, L.; Giraldo, P.; Mengel, E.; Michelakakis, H.; Manuel, J.; Hrebicek, M.; Parini, R.; Reinke, J.; di Rocco, M.; Pocovi, M.; Sa Miranda, M.C.; Tylki-Szymanska, A.; Zimran, A.; Cox, T. M. Force Majeure:therapeutic measures in response to restricted supply ofimiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol. Dis., 2010, 44(1),41-47.
-
(2010)
Blood Cells Mol. Dis
, vol.44
, Issue.1
, pp. 41-47
-
-
Hollak, C.E.1
vom Dahl, S.2
Aerts, J.M.3
Belmatoug, N.4
Bembi, B.5
Cohen, Y.6
Collin-Histed, T.7
Deegan, P.8
van Dussen, L.9
Giraldo, P.10
Mengel, E.11
Michelakakis, H.12
Manuel, J.13
Hrebicek, M.14
Parini, R.15
Reinke, J.16
Di Rocco, M.17
Pocovi, M.18
Sa Miranda, M.C.19
Tylki-Szymanska, A.20
Zimran, A.21
Cox, T.M.22
more..
-
62
-
-
77954693904
-
Phase I/II and extension study of velaglucerase alfa (Gene-Activated™Human Glucocerebrosidase) replacement therapy in adults withtype 1 gaucher disease: 48 month experience
-
Zimran, A.; Altarescu, G.; Phillips, M.; Attias, D.; Jmoudiak, M.; Deeb, M.; Wang, N.; Bhirangi, K.; Cohn, G. M.; Elstein, D. Phase I/II and extension study of velaglucerase alfa (Gene-Activated™Human Glucocerebrosidase) replacement therapy in adults withtype 1 gaucher disease: 48 month experience. Blood, 2010,115(23), 4651-4656.
-
(2010)
Blood
, vol.115
, Issue.23
, pp. 4651-4656
-
-
Zimran, A.1
Altarescu, G.2
Phillips, M.3
Attias, D.4
Jmoudiak, M.5
Deeb, M.6
Wang, N.7
Bhirangi, K.8
Cohn, G.M.9
Elstein, D.10
-
63
-
-
79956267244
-
Novel enzyme replacement therapy forgaucher disease: Phase iii pivotal clinical trial with plant cell expressedrecombinant glucocerebrosidase (prgcd)- taliglucerase alpha
-
6th Annual WORLD Symposium 2010, Miami FL, February10-12
-
Aviezer, D.; Almon-Brill, E.; Shaaltiel, Y.; Chertkoff, R.; Hashmueli, S.; Zimran, A. Novel enzyme replacement therapy forGaucher disease: Phase III pivotal clinical trial with plant cell expressedrecombinant glucocerebrosidase (prGCD)- taliglucerase alpha. 6th Annual WORLD Symposium 2010, Miami FL, February10-12, 2010.
-
(2010)
-
-
Aviezer, D.1
Almon-Brill, E.2
Shaaltiel, Y.3
Chertkoff, R.4
Hashmueli, S.5
Zimran, A.6
-
64
-
-
0016911422
-
Chemical models and chemotherapy in the sphingolipidoses
-
Volk, B.W.; Schneck, L. Plenum Press, New York
-
Radin, N.S. Chemical models and chemotherapy in the sphingolipidoses, in Current Trends in Sphingolipidoses and Allied Disorders, Ed.; Volk, B.W.; Schneck, L. Plenum Press, New York,1976, pp. 453-465.
-
(1976)
Current Trends In Sphingolipidoses and Allied Disorders
, pp. 453-465
-
-
Radin, N.S.1
-
65
-
-
0034728914
-
Novel oral treatment of Gaucher's diseasewith N-butyldeoxynojirimycin (OGT 918) to decrease substratebiosynthesis
-
Cox, T.; Lachmann, R.; Hollak, C.; Aerts, J.; van Weely, S.; Hrebicek, M.; Platt, F.; Butters, T.; Dwek, R.; Moyses, C.; Gow. I.; Elstein, D.; Zimran, A. Novel oral treatment of Gaucher's diseasewith N-butyldeoxynojirimycin (OGT 918) to decrease substratebiosynthesis. Lancet, 2000, 355, 1481-1485.
-
(2000)
Lancet
, vol.355
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
Aerts, J.4
van Weely, S.5
Hrebicek, M.6
Platt, F.7
Butters, T.8
Dwek, R.9
Moyses, C.10
Gow, I.11
Elstein, D.12
Zimran, A.13
-
66
-
-
0036308444
-
LowdoseN-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease
-
Heitner, R.; Elstein, D.; Aerts, J.; van Weely, S.; Zimran, A. LowdoseN-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol. Dis., 2002, 28, 127-129.
-
(2002)
Blood Cells Mol. Dis
, vol.28
, pp. 127-129
-
-
Heitner, R.1
Elstein, D.2
Aerts, J.3
van Weely, S.4
Zimran, A.5
-
67
-
-
34948880765
-
Oral maintenanceclinical trial with miglustat for type I Gaucher disease:Switch from or combination with intravenous enzyme replacement
-
Elstein, D.; Dweck, A.; Attias, D.; Hadas-Halpern, I.; Zevin, S.; Altarescu, G.; Aerts, J.F.; van Weely, S.; Zimran, A. Oral maintenanceclinical trial with miglustat for type I Gaucher disease:switch from or combination with intravenous enzyme replacement. Blood, 2007, 110, 2296-2299.
-
(2007)
Blood
, vol.110
, pp. 2296-2299
-
-
Elstein, D.1
Dweck, A.2
Attias, D.3
Hadas-Halpern, I.4
Zevin, S.5
Altarescu, G.6
Aerts, J.F.7
van Weely, S.8
Zimran, A.9
-
68
-
-
73049101383
-
Real-world clinical experience with long-term miglustat maintenancetherapy in type 1 Gaucher disease: The ZAGAL project
-
Giraldo, P.; Alfonso, P.; Atutxa, K.; Fernández-Galán, M.A.; Barez, A.; Franco. R.; Alonso, D.; Martin, A.; Latre, P.; Pocovi, M. Real-world clinical experience with long-term miglustat maintenancetherapy in type 1 Gaucher disease: the ZAGAL project. Haematologica, 2009, 94(12), 1771-1775.
-
(2009)
Haematologica
, vol.94
, Issue.12
, pp. 1771-1775
-
-
Giraldo, P.1
Alfonso, P.2
Atutxa, K.3
Fernández-Galán, M.A.4
Barez, A.5
Franco, R.6
Alonso, D.7
Martin, A.8
Latre, P.9
Pocovi, M.10
-
69
-
-
79956264396
-
Bone response to genz-112638 in a phase 2 study ingaucher disease type 1
-
6th Annual WORLD Symposium 2010,Miami FL, February 10-12
-
Watman, N.; Arreguin, E.A.; Pastores, G.; Iastrebner, M.; Dragosky, M.; Rosenbaum, H.; Phillips, M.; Kaper, M.; Singh, T.; Puga, A.C. Bone response to GENZ-112638 in a Phase 2 study inGaucher disease type 1. 6th Annual WORLD Symposium 2010,Miami FL, February 10-12.
-
-
-
Watman, N.1
Arreguin, E.A.2
Pastores, G.3
Iastrebner, M.4
Dragosky, M.5
Rosenbaum, H.6
Phillips, M.7
Kaper, M.8
Singh, T.9
Puga, A.C.10
-
70
-
-
0037180511
-
Chemical chaperones increase the cellular activity ofN370S beta -glucosidase: A therapeutic strategy for Gaucher disease
-
Sawkar, A.R.; Cheng, W.C.; Beutler, E.; Wong, C.H.; Balch, W.E.; Kelly, J.W. Chemical chaperones increase the cellular activity ofN370S beta -glucosidase: a therapeutic strategy for Gaucher disease. Proc. Natl. Acad. Sci. USA, 2002, 99(24), 15428-15433.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, Issue.24
, pp. 15428-15433
-
-
Sawkar, A.R.1
Cheng, W.C.2
Beutler, E.3
Wong, C.H.4
Balch, W.E.5
Kelly, J.W.6
-
71
-
-
26444609722
-
ER retention and degradation as the molecularbasis underlying Gaucher disease heterogeneity
-
Ron, I.; Horowitz, M. ER retention and degradation as the molecularbasis underlying Gaucher disease heterogeneity. Hum. Mol.Genet., 2005, 14, 2387-2398.
-
(2005)
Hum. Mol.Genet
, vol.14
, pp. 2387-2398
-
-
Ron, I.1
Horowitz, M.2
-
72
-
-
3142737171
-
Enzyme replacement therapy for Fabry disease: Lessonsfrom two alpha-galactosidase A orphan products and one FD A approval
-
Desnick, R.J. Enzyme replacement therapy for Fabry disease: lessonsfrom two alpha-galactosidase A orphan products and one FD A approval. Expert Opin. Biol. Ther., 2004, 4(7),1167-1176.
-
(2004)
Expert Opin. Biol. Ther
, vol.4
, Issue.7
, pp. 1167-1176
-
-
Desnick, R.J.1
-
73
-
-
33747405125
-
Hydrophiliciminosugar active-site-specific chaperones increase residualglucocerebrosidase activity in fibroblasts from Gaucher patients
-
Chang, H.H.; Asano, N.; Ishii, S.; Ichikawa, Y.; Fan, J.Q. Hydrophiliciminosugar active-site-specific chaperones increase residualglucocerebrosidase activity in fibroblasts from Gaucher patients. FEBS J., 2006, 273(17),4082-4092.
-
(2006)
FEBS J
, vol.273
, Issue.17
, pp. 4082-4092
-
-
Chang, H.H.1
Asano, N.2
Ishii, S.3
Ichikawa, Y.4
Fan, J.Q.5
-
74
-
-
41249093218
-
Isofagomineincreases lysosomal delivery of exogenous glucocerebrosidase
-
Shen, J.S.; Edwards, N.J.; Hong, Y.B.; Murray, G.J. Isofagomineincreases lysosomal delivery of exogenous glucocerebrosidase. Biochem. Biophys. Res. Commun., 2008, 369(4),1071-1075.
-
(2008)
Biochem. Biophys. Res. Commun
, vol.369
, Issue.4
, pp. 1071-1075
-
-
Shen, J.S.1
Edwards, N.J.2
Hong, Y.B.3
Murray, G.J.4
-
75
-
-
77949643182
-
The pharmacological chaperoneisofagomine increases the activity of the Gaucher diseaseL444P mutant form of beta-glucosidase
-
Khanna, R.; Benjamin, E.R.; Pellegrino, L.; Schilling, A.; Rigat, B.A.; Soska, R.; Nafar, H.; Ranes, B.E.; Feng, J.; Lun, Y.; Powe, A.C.; Palling, D.J.; Wustman, B.A.; Schiffmann, R.; Mahuran, D.J.; Lockhart, D.J.; Valenzano, K.J. The pharmacological chaperoneisofagomine increases the activity of the Gaucher diseaseL444P mutant form of beta-glucosidase. FEBS J., 2010,277(7),1618-1638.
-
(2010)
FEBS J
, vol.277
, Issue.7
, pp. 1618-1638
-
-
Khanna, R.1
Benjamin, E.R.2
Pellegrino, L.3
Schilling, A.4
Rigat, B.A.5
Soska, R.6
Nafar, H.7
Ranes, B.E.8
Feng, J.9
Lun, Y.10
Powe, A.C.11
Palling, D.J.12
Wustman, B.A.13
Schiffmann, R.14
Mahuran, D.J.15
Lockhart, D.J.16
Valenzano, K.J.17
-
76
-
-
59449109683
-
Identification ofpharmacological chaperones for Gaucher disease and characterizationof their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry
-
Tropak, M.B.; Kornhaber, G.J.; Rigat, B.A.; Maegawa, G.H.; Buttner, J.D.; Blanchard, J.E.; Murphy, C.; Tuske, S.J.; Coales, S.J.; Hamuro, Y.; Brown, E.D.; Mahuran, D.J. Identification ofpharmacological chaperones for Gaucher disease and characterizationof their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry. Chembiochem., 2008,9(16), 2650-2662.
-
(2008)
Chembiochem
, vol.9
, Issue.16
, pp. 2650-2662
-
-
Tropak, M.B.1
Kornhaber, G.J.2
Rigat, B.A.3
Maegawa, G.H.4
Buttner, J.D.5
Blanchard, J.E.6
Murphy, C.7
Tuske, S.J.8
Coales, S.J.9
Hamuro, Y.10
Brown, E.D.11
Mahuran, D.J.12
-
77
-
-
69949119548
-
Identification and characterization of ambroxolas an enzyme-enhancement agent for Gaucher disease
-
Maegawa, G.H.; Tropak, M.B.; Buttner, J.D.; Rigat, B.A.; Fuller, M.; Pandit, D.; Tang, L.; Kornhaber, G.J.; Hamuro, Y.; Clarke, J.T.; Mahuran, D.J. Identification and characterization of ambroxolas an enzyme-enhancement agent for Gaucher disease. J. Biol.Chem., 2009, 284(35), 23502-23516.
-
(2009)
J. Biol.Chem
, vol.284
, Issue.35
, pp. 23502-23516
-
-
Maegawa, G.H.1
Tropak, M.B.2
Buttner, J.D.3
Rigat, B.A.4
Fuller, M.5
Pandit, D.6
Tang, L.7
Kornhaber, G.J.8
Hamuro, Y.9
Clarke, J.T.10
Mahuran, D.J.11
-
78
-
-
0022378715
-
A double-blind placebo controlled trial with oral ambroxoland N-acetylcysteine for mucolytic treatment in cystic fibrosis
-
Ratjen, F.; Wönne, R.; Posselt, H.G.; Stöver, B.; Hofmann, D.; Bender, S.W. A double-blind placebo controlled trial with oral ambroxoland N-acetylcysteine for mucolytic treatment in cystic fibrosis. Eur. J. Pediatr., 1985, 144(4), 374-378.
-
(1985)
Eur. J. Pediatr
, vol.144
, Issue.4
, pp. 374-378
-
-
Ratjen, F.1
Wönne, R.2
Posselt, H.G.3
Stöver, B.4
Hofmann, D.5
Bender, S.W.6
-
79
-
-
0033779634
-
Antenatal useof ambroxol for the prevention of infant respiratory distress syndrome
-
Laoag-Fernandez, J. B.; Fernandez, A. M.; Maruo, T. Antenatal useof ambroxol for the prevention of infant respiratory distress syndrome.J. Obstet. Gynaecol. Res., 2000, 26(4),307-312.
-
(2000)
J. Obstet. Gynaecol. Res
, vol.26
, Issue.4
, pp. 307-312
-
-
Laoag-Fernandez, J.B.1
Fernandez, A.M.2
Maruo, T.3
-
80
-
-
61849179838
-
Diltiazem, a L-type Ca(2+) channelblocker, also acts as a pharmacological chaperone in Gaucher patientcells
-
Rigat, B.; Mahuran, D. Diltiazem, a L-type Ca(2+) channelblocker, also acts as a pharmacological chaperone in Gaucher patientcells. Mol. Genet. Metab., 2009, 96(4),225-232.
-
(2009)
Mol. Genet. Metab
, vol.96
, Issue.4
, pp. 225-232
-
-
Rigat, B.1
Mahuran, D.2
-
81
-
-
34447295360
-
Neurologic improvement in a type 3 Gaucher diseasepatient treated with imiglucerase/miglustat combination
-
Capablo, J. L.; Franco, R.; de Cabezón, A. S.; Alfonso, P.; Pocovi, M.; Giraldo, P. Neurologic improvement in a type 3 Gaucher diseasepatient treated with imiglucerase/miglustat combination. Epilepsia, 2007, 48(7), 1406-1408.
-
(2007)
Epilepsia
, vol.48
, Issue.7
, pp. 1406-1408
-
-
Capablo, J.L.1
Franco, R.2
de Cabezón, A.S.3
Alfonso, P.4
Pocovi, M.5
Giraldo, P.6
-
82
-
-
4444328072
-
Gaucher disease: Alendronatedisodium improves bone mineral density in adults receiving enzymetherapy
-
Wenstrup, R. J.; Bailey, L.; Grabowski, G. A.; Moskovitz, J.; Oestreich, A. E.; Wu, W.; Sun, S. Gaucher disease: alendronatedisodium improves bone mineral density in adults receiving enzymetherapy. Blood, 2004, 104(5), 1253-1257.
-
(2004)
Blood
, vol.104
, Issue.5
, pp. 1253-1257
-
-
Wenstrup, R.J.1
Bailey, L.2
Grabowski, G.A.3
Moskovitz, J.4
Oestreich, A.E.5
Wu, W.6
Sun, S.7
-
83
-
-
60649098110
-
Patients with Gaucher disease living in Englandshow a high prevalence of vitamin D insufficiency with correlationto osteodensitometry
-
Mikosch, P.; Reed, M.; Stettner, H.; Baker, R.; Mehta, A. B.; Hughes, D. A. Patients with Gaucher disease living in Englandshow a high prevalence of vitamin D insufficiency with correlationto osteodensitometry. Mol. Genet. Metab., 2009, 96(3),113-120.
-
(2009)
Mol. Genet. Metab
, vol.96
, Issue.3
, pp. 113-120
-
-
Mikosch, P.1
Reed, M.2
Stettner, H.3
Baker, R.4
Mehta, A.B.5
Hughes, D.A.6
|