-
1
-
-
0031563137
-
Lysosomal biogenesis in lysosomal storage disorders
-
KARAGEORGOS LE, ISAAC EL, BROOKS DA et al.: Lysosomal biogenesis in lysosomal storage disorders. Exp. Cell Res. (1997) 234(1):85-97.
-
(1997)
Exp. Cell Res.
, vol.234
, Issue.1
, pp. 85-97
-
-
Karageorgos, L.E.1
Isaac, E.L.2
Brooks, D.A.3
-
2
-
-
0032867524
-
Recent advances in the biochemistry of glycosphingolipid metabolism
-
KOLTER T, DOERING T, WILKENING G, WERTH N, SANDHOFF K: Recent advances in the biochemistry of glycosphingolipid metabolism. Biochem. Soc. Trans. (1999) 27(4):409-415.
-
(1999)
Biochem. Soc. Trans.
, vol.27
, Issue.4
, pp. 409-415
-
-
Kolter, T.1
Doering, T.2
Wilkening, G.3
Werth, N.4
Sandhoff, K.5
-
3
-
-
0036303882
-
Lysosomal disorders
-
WRAITH JE: Lysosomal disorders. Semin. Neonatol. (2002) 7(1):75-83.
-
(2002)
Semin. Neonatol.
, vol.7
, Issue.1
, pp. 75-83
-
-
Wraith, J.E.1
-
4
-
-
0007930377
-
The person behind the syndrome
-
(revised edn), Springer Verlag, Berlin, Germany
-
BEIGHTON G, BEIGHTON P: The person behind the syndrome (revised edn), Springer Verlag, Berlin, Germany (1997).
-
(1997)
-
-
Beighton, G.1
Beighton, P.2
-
6
-
-
0036415124
-
Glycosphingolipid lysosomal storage diseases: Therapy and pathogenesis
-
JEYAKUMAR M, BUTTERS TD, DWEK RA, PLATT FM: Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis. Neuropathol. Appl. Neurobiol. (2002) 28(5):343-357.
-
(2002)
Neuropathol. Appl. Neurobiol.
, vol.28
, Issue.5
, pp. 343-357
-
-
Jeyakumar, M.1
Butters, T.D.2
Dwek, R.A.3
Platt, F.M.4
-
7
-
-
0036247196
-
New prospects for the treatment of lysosomal storage diseases
-
SCHIFFMANN R, BRADY RO: New prospects for the treatment of lysosomal storage diseases. Drugs (2002) 62(5):733-742.
-
(2002)
Drugs
, vol.62
, Issue.5
, pp. 733-742
-
-
Schiffmann, R.1
Brady, R.O.2
-
8
-
-
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
-
9
-
-
0014012410
-
The sphingolipidoses
-
BRADY RO: 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
-
10
-
-
0019466750
-
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation
-
(8249)
-
HOBBS JR, HUGH-JONES K, BARRETT AJ et al.: Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet (1981) 2(8249):709-712.
-
(1981)
Lancet
, vol.2
, pp. 709-712
-
-
Hobbs, J.R.1
Hugh-Jones, K.2
Barrett, A.J.3
-
11
-
-
0021244174
-
Bone-marrow transplantation in severe Gaucher's disease
-
RAPPEPORT JM, GINNS EI: Bone-marrow transplantation in severe Gaucher's disease. N. Engl. J. Med. (1984) 311(2):84-88.
-
(1984)
N. Engl. J. Med.
, vol.311
, Issue.2
, pp. 84-88
-
-
Rappeport, J.M.1
Ginns, E.I.2
-
12
-
-
0036362937
-
Stem cell bone marrow transplantation in patients with metabolic storage diseases
-
KRIVIT W: Stem cell bone marrow transplantation in patients with metabolic storage diseases. Adv. Pediatr. (2002) 49:359-378.
-
(2002)
Adv. Pediatr.
, vol.49
, pp. 359-378
-
-
Krivit, W.1
-
13
-
-
0030512361
-
Technology transfer at US universities: Seeking public benefit from the results of basic research
-
GOODWIN CD: Technology transfer at US universities: seeking public benefit from the results of basic research. Technol. Health Care. (1996) 4(3):323-330.
-
(1996)
Technol. Health Care
, vol.4
, Issue.3
, pp. 323-330
-
-
Goodwin, C.D.1
-
15
-
-
0036052503
-
Targeting glycosylation as a therapeutic approach
-
DWEK RA, BUTTERS TD, PLATT FM, ZITZMANN N: Targeting glycosylation as a therapeutic approach. Nat. Rev. Drug. Discov. (2002) 1(1):65-75.
-
(2002)
Nat. Rev. Drug Discov.
, vol.1
, Issue.1
, pp. 65-75
-
-
Dwek, R.A.1
Butters, T.D.2
Platt, F.M.3
Zitzmann, N.4
-
16
-
-
0035811674
-
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy
-
FRUSTACI A, CHIMENTI C, RICCI R et al.: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N. Engl. J. Med. (2001) 345(1):25-32.
-
(2001)
N. Engl. J. Med.
, vol.345
, Issue.1
, pp. 25-32
-
-
Frustaci, A.1
Chimenti, C.2
Ricci, R.3
-
17
-
-
0036699607
-
Gene therapy for the central nervous system in the lysosomal storage disorders
-
KAYE EM, SENA-ESTEVES M: Gene therapy for the central nervous system in the lysosomal storage disorders. Neurol. Clin. (2002) 20(3):879-901.
-
(2002)
Neurol. Clin.
, vol.20
, Issue.3
, pp. 879-901
-
-
Kaye, E.M.1
Sena-Esteves, M.2
-
18
-
-
0037315283
-
Substrate reduction therapy: Miglustat as a remedy for symptomatic patients with Gaucher disease Type 1
-
PASTORES GM, BARNETT NL: Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease Type 1. Expert Opin. Investig. Drugs (2003) 12(2):273-281.
-
(2003)
Expert Opin. Investig. Drugs
, vol.12
, Issue.2
, pp. 273-281
-
-
Pastores, G.M.1
Barnett, N.L.2
-
19
-
-
0036895451
-
Enzyme replacement and enhancement therapies: Lessons from lysosomal disorders
-
DESNICK RJ, SCHUCHMAN EH: Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat. Rev. Genet. (2002) 3(12):954-966.
-
(2002)
Nat. Rev. Genet.
, vol.3
, Issue.12
, pp. 954-966
-
-
Desnick, R.J.1
Schuchman, E.H.2
-
21
-
-
0028805224
-
Therapeutic approaches to lysosomal storage diseases
-
KAYE EM: Therapeutic approaches to lysosomal storage diseases. Curr. Opin. Pediatr. (1995) 7(6):650-654.
-
(1995)
Curr. Opin. Pediatr.
, vol.7
, Issue.6
, pp. 650-654
-
-
Kaye, E.M.1
-
22
-
-
0031877439
-
The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: Results from a retrospective study
-
DAMIANO AM, PASTORES GM, WARE JE Jr: The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual. Life Res. (1998) 7(5):373-386.
-
(1998)
Qual. Life Res.
, vol.7
, Issue.5
, pp. 373-386
-
-
Damiano, A.M.1
Pastores, G.M.2
Ware J.E., Jr.3
-
24
-
-
0344094038
-
Evidence for receptor-mediated binding of glycoproteins, glycoconjugates, and lysosomal glycosidases by alveolar macrophages
-
STAHL PD, RODMAN JS, MILLER MJ, SCHLESINGER PH: Evidence for receptor-mediated binding of glycoproteins, glycoconjugates, and lysosomal glycosidases by alveolar macrophages. Proc. Natl. Acad. Sci. USA (1978) 75(3):1399-1403.
-
(1978)
Proc. Natl. Acad. Sci. USA
, vol.75
, Issue.3
, pp. 1399-1403
-
-
Stahl, P.D.1
Rodman, J.S.2
Miller, M.J.3
Schlesinger, P.H.4
-
25
-
-
0026302399
-
Structural characteristics and regulation of the asialoglycoprotein receptor
-
STOCKERT RJ, MORELL AG, ASHWELL G: Structural characteristics and regulation of the asialoglycoprotein receptor. Targeted Diagn. Ther. (1991) 4:41-64.
-
(1991)
Targeted Diagn. Ther.
, vol.4
, pp. 41-64
-
-
Stockert, R.J.1
Morell, A.G.2
Ashwell, G.3
-
27
-
-
0036980794
-
Enzyme replacement therapy: From concept to clinical practice
-
SLY WS: Enzyme replacement therapy: from concept to clinical practice. Acta Paediatr. Suppl. (2002) 91(439):71-78.
-
(2002)
Acta Paediatr. Suppl.
, vol.91
, Issue.439
, pp. 71-78
-
-
Sly, W.S.1
-
28
-
-
0027521186
-
Lysosomal storage diseases: Mechanisms of enzyme replacement therapy
-
BOU-GHARIOS G, ABRAHAM D, OLSEN I: Lysosomal storage diseases: mechanisms of enzyme replacement therapy. Histochem. J. (1993) 25(9):593-605.
-
(1993)
Histochem. J.
, vol.25
, Issue.9
, pp. 593-605
-
-
Bou-Gharios, G.1
Abraham, D.2
Olsen, I.3
-
29
-
-
0036317909
-
Industrial processes with animal cells
-
KRETZMER G: Industrial processes with animal cells. Appl. Microbiol. Biotechnol. (2002) 59(2-3):135-142.
-
(2002)
Appl. Microbiol. Biotechnol.
, vol.59
, Issue.2-3
, pp. 135-142
-
-
Kretzmer, G.1
-
30
-
-
0031983745
-
Mouse models of human lysosomal diseases
-
SUZUKI K, PROIA RL, SUZUKI K: Mouse models of human lysosomal diseases. Brain Pathol. (1998) 8(1):195-215.
-
(1998)
Brain Pathol.
, vol.8
, Issue.1
, pp. 195-215
-
-
Suzuki, K.1
Proia, R.L.2
Suzuki, K.3
-
31
-
-
0031849675
-
Animal models of lysosomal disease: An overview
-
SUZUKI K, MANSSON JE: Animal models of lysosomal disease: an overview. J. Inherit. Metab. Dis. (1998) 21(5):540-547.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, Issue.5
, pp. 540-547
-
-
Suzuki, K.1
Mansson, J.E.2
-
32
-
-
0014059120
-
Lysosomes in lymphoid tissue. II. Intracellular distribution of acid hydrolases
-
BOWERS WE, DE DUVE C: Lysosomes in lymphoid tissue. II. Intracellular distribution of acid hydrolases. J. Cell. Biol. (1967) 32(2):339-348.
-
(1967)
J. Cell. Biol.
, vol.32
, Issue.2
, pp. 339-348
-
-
Bowers, W.E.1
De Duve, C.2
-
33
-
-
0025116194
-
Normal metabolism and disorders of carbohydrate metabolism
-
DE BARSY T, HERS HG: Normal metabolism and disorders of carbohydrate metabolism. Baillieres Clin. Endocrinol. Metab. (1990) 4(3):499-522.
-
(1990)
Baillieres Clin. Endocrinol. Metab.
, vol.4
, Issue.3
, pp. 499-522
-
-
De Barsy, T.1
Hers, H.G.2
-
34
-
-
0031844267
-
Therapy for the sphingolipidoses
-
BRADY RO: Therapy for the sphingolipidoses. Arch. Neurol. (1998) 55(8):1055-1056.
-
(1998)
Arch. Neurol.
, vol.55
, Issue.8
, pp. 1055-1056
-
-
Brady, R.O.1
-
35
-
-
0014352329
-
Hurler and Hunter syndromes: Mutual correction of the defect in cultured fibroblasts
-
FRATANTONI JC, HALL CW, NEUFELD EF: Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science (1968) 162(853):570-572.
-
(1968)
Science
, vol.162
, Issue.853
, pp. 570-572
-
-
Fratantoni, J.C.1
Hall, C.W.2
Neufeld, E.F.3
-
36
-
-
0017712280
-
Phosphohexosyl recognition is a general characteristic of pinocytosis of lysosomal glycosidases by human fibroblasts
-
KAPLAN A, FISCHER D, ACHORD D, SLY W: Phosphohexosyl recognition is a general characteristic of pinocytosis of lysosomal glycosidases by human fibroblasts. J. Clin. Invest. (1977) 60(5):1088-1093.
-
(1977)
J. Clin. Invest.
, vol.60
, Issue.5
, pp. 1088-1093
-
-
Kaplan, A.1
Fischer, D.2
Achord, D.3
Sly, W.4
-
37
-
-
0026637316
-
Structure and function of the mannose 6-phosphate/insulin-like growth factor II receptors
-
KORNFELD S: Structure and function of the mannose 6-phosphate/insulin-like growth factor II receptors. Annu. Rev. Biochem. (1992) 61:307-330.
-
(1992)
Annu. Rev. Biochem.
, vol.61
, pp. 307-330
-
-
Kornfeld, S.1
-
38
-
-
0035009168
-
Enzyme replacement and beyond
-
DESNICK RJ: Enzyme replacement and beyond. J. Inherit. Metab. Dis. (2001) 24(2):251-265.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.2
, pp. 251-265
-
-
Desnick, R.J.1
-
39
-
-
0025826050
-
Lysosomal storage diseases
-
NEUFELD EF: Lysosomal storage diseases. Ann. Rev. Biochem. (1991) 60:257-280.
-
(1991)
Ann. Rev. Biochem.
, vol.60
, pp. 257-280
-
-
Neufeld, E.F.1
-
40
-
-
0022996804
-
Glycoprotein phosphorylation in simple eucaryotic organisms. Identification of UDP-GlcNAc:glycoprotein N-acetylglucosamine-1-phosphotransferase activity and analysis of substrate specificity
-
LANG L, COUSO R, KORNFELD S: Glycoprotein phosphorylation in simple eucaryotic organisms. Identification of UDP-GlcNAc:glycoprotein N-acetylglucosamine-1-phosphotransferase activity and analysis of substrate specificity. J. Biol. Chem. (1986) 261(14):6320-6325.
-
(1986)
J. Biol. Chem.
, vol.261
, Issue.14
, pp. 6320-6325
-
-
Lang, L.1
Couso, R.2
Kornfeld, S.3
-
41
-
-
0035985052
-
Biosynthesis of lysosomal proteases in health and disease
-
MACH L: Biosynthesis of lysosomal proteases in health and disease. Biol. Chem. (2002) 383(5):751-756.
-
(2002)
Biol. Chem.
, vol.383
, Issue.5
, pp. 751-756
-
-
Mach, L.1
-
42
-
-
0032693385
-
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome
-
KRIVIT W, AUBOURG P, SHAPIRO E, PETERS C: Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr. Opin. Hematol. (1999) 6(6):377-382.
-
(1999)
Curr. Opin. Hematol.
, vol.6
, Issue.6
, pp. 377-382
-
-
Krivit, W.1
Aubourg, P.2
Shapiro, E.3
Peters, C.4
-
43
-
-
0032941197
-
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease Type III
-
KRIVIT W, PETERS C, SHAPIRO EG: Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease Type III. Curr. Opin. Neurol. (1999) 12(2):167-176.
-
(1999)
Curr. Opin. Neurol.
, vol.12
, Issue.2
, pp. 167-176
-
-
Krivit, W.1
Peters, C.2
Shapiro, E.G.3
-
44
-
-
0037229996
-
Recent advances in allogeneic hematopoietic stem-cell transplantation
-
DEVINE SM, ADKINS DR, KHOURY H et al.: Recent advances in allogeneic hematopoietic stem-cell transplantation. J. Lab. Clin. Med. (2003) 141(1):7-32.
-
(2003)
J. Lab. Clin. Med.
, vol.141
, Issue.1
, pp. 7-32
-
-
Devine, S.M.1
Adkins, D.R.2
Khoury, H.3
-
45
-
-
18544363433
-
Long-term survival after liver transplantation in children with metabolic disorders
-
KAYLER LK, MERION RM, LEE S et al.: Long-term survival after liver transplantation in children with metabolic disorders. Pediatr. Transplant. (2002) 6(4):295-300.
-
(2002)
Pediatr. Transplant.
, vol.6
, Issue.4
, pp. 295-300
-
-
Kayler, L.K.1
Merion, R.M.2
Lee, S.3
-
46
-
-
0036016912
-
Renal transplantation in patients with Fabry disease
-
SESSA A, MERONI M, BATTINI G et al.: Renal transplantation in patients with Fabry disease. Nephron. (2002) 91(2):348-351.
-
(2002)
Nephron.
, vol.91
, Issue.2
, pp. 348-351
-
-
Sessa, A.1
Meroni, M.2
Battini, G.3
-
47
-
-
0036729765
-
Microchimerism in health and disease
-
ARTLETT CM: Microchimerism in health and disease. Curr. Mol. Med. (2002) 2(6):525-535.
-
(2002)
Curr. Mol. Med.
, vol.2
, Issue.6
, pp. 525-535
-
-
Artlett, C.M.1
-
48
-
-
0028305775
-
Enzyme replacement therapy for Gaucher disease: Critical investigations beyond demonstration of clinical efficacy
-
BRADY RO, BARTON NW: Enzyme replacement therapy for Gaucher disease: critical investigations beyond demonstration of clinical efficacy. Biochem. Med. Metab. Biol. (1994) 52(1):1-9.
-
(1994)
Biochem. Med. Metab. Biol.
, vol.52
, Issue.1
, pp. 1-9
-
-
Brady, R.O.1
Barton, N.W.2
-
49
-
-
0027299995
-
Recognition of complex carbohydrates by the macrophage mannose receptor
-
TAYLOR ME: Recognition of complex carbohydrates by the macrophage mannose receptor. Biochem. Soc. Trans. (1993) 21(2):468-473.
-
(1993)
Biochem. Soc. Trans.
, vol.21
, Issue.2
, pp. 468-473
-
-
Taylor, M.E.1
-
50
-
-
0026967509
-
Asialoglycoprotein receptor
-
GEFFEN I, SPIESS M: Asialoglycoprotein receptor. Int. Rev. Cytol. (1992) 137B: 181-219.
-
(1992)
Int. Rev. Cytol.
, vol.137 B
, pp. 181-219
-
-
Geffen, I.1
Spiess, M.2
-
51
-
-
0028883136
-
Enzyme therapy in Type 1 Gaucher disease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
-
GRABOWSKI GA, BARTON NW, PASTORES G et al.: Enzyme therapy in Type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann. Intern. Med. (1995) 122(1):33-39.
-
(1995)
Ann. Intern. Med.
, vol.122
, Issue.1
, pp. 33-39
-
-
Grabowski, G.A.1
Barton, N.W.2
Pastores, G.3
-
52
-
-
0019475525
-
Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation
-
FURBISH FS, STEER CJ, KRETT NL, BARRANGER JA: Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochim. Biophys. Acta. (1981) 673(4):425-434.
-
(1981)
Biochim. Biophys. Acta.
, vol.673
, Issue.4
, pp. 425-434
-
-
Furbish, F.S.1
Steer, C.J.2
Krett, N.L.3
Barranger, J.A.4
-
53
-
-
0022380292
-
Targeting of synthetically glycosylated human placental glucocerebrosidase
-
MURRAY GJ, DOEBBER TW, SHEN TY et al.: Targeting of synthetically glycosylated human placental glucocerebrosidase. Biochem. Med. (1985) 34(2):241-246.
-
(1985)
Biochem. Med.
, vol.34
, Issue.2
, pp. 241-246
-
-
Murray, G.J.1
Doebber, T.W.2
Shen, T.Y.3
-
54
-
-
0027218354
-
Enzyme therapy in Gaucher disease Type 1: Dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months
-
PASTORES GM, SIBILLE AR, GRABOWSKI GA: Enzyme therapy in Gaucher disease Type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood (1993) 82(2):408-416.
-
(1993)
Blood
, vol.82
, Issue.2
, pp. 408-416
-
-
Pastores, G.M.1
Sibille, A.R.2
Grabowski, G.A.3
-
55
-
-
0037505669
-
Gaucher disease: From fundamental research to effective therapeutic interventions
-
DE FOST M, AERTS JM, HOLLAK CE: Gaucher disease: from fundamental research to effective therapeutic interventions. Neth. J. Med. (2003) 61(1):3-8.
-
(2003)
Neth. J. Med.
, vol.61
, Issue.1
, pp. 3-8
-
-
De Fost, M.1
Aerts, J.M.2
Hollak, C.E.3
-
56
-
-
0037159549
-
Effectiveness of enzyme replacement therapy in 1028 patients with Type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
-
WEINREB NJ, CHARROW J, ANDERSSON HC et al.: Effectiveness of enzyme replacement therapy in 1028 patients with Type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am. J. Med. (2002) 113(2):112-119.
-
(2002)
Am. J. Med.
, vol.113
, Issue.2
, pp. 112-119
-
-
Weinreb, N.J.1
Charrow, J.2
Andersson, H.C.3
-
57
-
-
0036366669
-
The mousetrap: What we can learn when the mouse model does not mimic the human disease
-
ELSEA SH, LUCAS RE: The mousetrap: what we can learn when the mouse model does not mimic the human disease. ILAR J. (2002) 43(2):66-79.
-
(2002)
ILAR J.
, vol.43
, Issue.2
, pp. 66-79
-
-
Elsea, S.H.1
Lucas, R.E.2
-
58
-
-
0029006757
-
A biochemical and ultrastructural evaluation of the Type 2 Gaucher mouse
-
WILLEMSEN R, TYBULEWICZ V, SIDRANSKY E et al.: A biochemical and ultrastructural evaluation of the Type 2 Gaucher mouse. Mol. Chem. Neuropathol. (1995) 24(2-3):179-192.
-
(1995)
Mol. Chem. Neuropathol.
, vol.24
, Issue.2-3
, pp. 179-192
-
-
Willemsen, R.1
Tybulewicz, V.2
Sidransky, E.3
-
59
-
-
0036242349
-
Gaucher disease: Perspectives on a prototype lysosomal disease
-
ZHAO H, GRABOWSKI GA: Gaucher disease: perspectives on a prototype lysosomal disease. Cell Mol. Life Sci. (2002) 59(4):694-707.
-
(2002)
Cell Mol. Life Sci.
, vol.59
, Issue.4
, pp. 694-707
-
-
Zhao, H.1
Grabowski, G.A.2
-
60
-
-
0036234750
-
Advances in the management of Anderson-Fabry disease: Enzyme replacement therapy
-
PASTORES GM, THADHANI R: Advances in the management of Anderson-Fabry disease: enzyme replacement therapy. Expert Opin. Biol. Ther. (2002) 2(3):325-333.
-
(2002)
Expert Opin. Biol. Ther.
, vol.2
, Issue.3
, pp. 325-333
-
-
Pastores, G.M.1
Thadhani, R.2
-
61
-
-
0035999743
-
Enzyme replacement therapy for the mucopolysaccharide storage disorders
-
KAKKIS ED: Enzyme replacement therapy for the mucopolysaccharide storage disorders. Expert Opin. Investig. Drugs (2002) 11(5):675-685.
-
(2002)
Expert Opin. Investig. Drugs
, vol.11
, Issue.5
, pp. 675-685
-
-
Kakkis, E.D.1
-
62
-
-
0036086765
-
Acid α-glucosidase deficiency (glycogenosis Type II, Pompe disease)
-
RABEN N, PLOTZP, BYRNE BJ: Acid α-glucosidase deficiency (glycogenosis Type II, Pompe disease). Curr. Mol. Med. (2002) 2(2):145-166.
-
(2002)
Curr. Mol. Med.
, vol.2
, Issue.2
, pp. 145-166
-
-
Raben, N.1
Plotzp, A.2
Byrne, B.J.3
-
63
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
MEIKLE PJ, HOPWOOD JJ, CLAGUE AE, CAREY WF: Prevalence of lysosomal storage disorders. JAMA (1999) 281(3):249-254.
-
(1999)
JAMA
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
64
-
-
0003720078
-
-
(8th edn). Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York, USA
-
The metabolic and molecular basis of inherited diseases (8th edn). Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York, USA (2001).
-
(2001)
The Metabolic and Molecular Basis of Inherited Diseases
-
-
-
65
-
-
12944265457
-
Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
SCHIFFMANN R, MURRAY GJ, TRECO D: Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl. Acad. Sci. USA (2000) 97(1):365-370.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, Issue.1
, pp. 365-370
-
-
Schiffmann, R.1
Murray, G.J.2
Treco, D.3
-
66
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomised controlled trial
-
SCHIFFMANN R, KOPP JB, AUSTIN HA III et al.: Enzyme replacement therapy in Fabry disease: a randomised controlled trial. JAMA (2001) 285(21):2743-2749.
-
(2001)
JAMA
, vol.285
, Issue.21
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin H.A. III3
-
67
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase A-replacement therapy in Fabry's disease
-
International Collaborative Fabry Disease Study Group
-
ENG CM, GUFFON N, WILCOX WR et al.: International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human α-galactosidase A-replacement therapy in Fabry's disease. N. Engl. J. Med. (2001) 345(1):9-16.
-
(2001)
N. Engl. J. Med.
, vol.345
, Issue.1
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
68
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease
-
BARTON NW, BRADY RO, DAMBROSIA JM et al.: Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Eng. J. Med. (1991) 324(21):1464-1470.
-
(1991)
N. Eng. J. Med.
, vol.324
, Issue.21
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
-
69
-
-
0036910177
-
α-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I
-
BROOKS DA. α-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin. Biol. Ther. (2002) 2(8):967-976.
-
(2002)
Expert Opin. Biol. Ther.
, vol.2
, Issue.8
, pp. 967-976
-
-
Brooks, D.A.1
-
70
-
-
0035746540
-
Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease Type II: Results of a Phase I/II clinical trial
-
AMALFITANO A, BENGUR AR, MORSE RP et al.: Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease Type II: results of a Phase I/II clinical trial. Genet. Med. (2001) 3(2):132-138.
-
(2001)
Genet. Med.
, vol.3
, Issue.2
, pp. 132-138
-
-
Amalfitano, A.1
Bengur, A.R.2
Morse, R.P.3
-
71
-
-
0036390045
-
Enzyme therapy for Pompe disease: From science to industrial enterprise
-
REUSER AJ, VAN DEN HOUT H, BIJVOET AG, KROOS MA, VERBEET MP, VAN DER PLOEG AT: Enzyme therapy for Pompe disease: from science to industrial enterprise. Eur. J. Pediatr. (2002) 161(Suppl.1):S106-S1011.
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.SUPPL. 1
-
-
Reuser, A.J.1
Van Den Hout, H.2
Bijvoet, A.G.3
Kroos, M.A.4
Verbeet, M.P.5
Van Der Ploeg, A.T.6
-
72
-
-
0037108233
-
Clinical trials in the new millennium
-
DEMETS DL: Clinical trials in the new millennium. Stat. Med. (2002) 21(19):2779-2787.
-
(2002)
Stat. Med.
, vol.21
, Issue.19
, pp. 2779-2787
-
-
Demets, D.L.1
-
73
-
-
0030268577
-
Surrogate end points in clinical trials: Are we being misled?
-
FLEMING TR, DEMETS DL: Surrogate end points in clinical trials: are we being misled? Ann. Intern. Med. (1996) 125(7):605-613.
-
(1996)
Ann. Intern. Med.
, vol.125
, Issue.7
, pp. 605-613
-
-
Fleming, T.R.1
Demets, D.L.2
-
74
-
-
0032737067
-
Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models
-
BROOKS DA: Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models. Mol. Genet. Metab. (1999) 68(2):268-275.
-
(1999)
Mol. Genet. Metab.
, vol.68
, Issue.2
, pp. 268-275
-
-
Brooks, D.A.1
-
75
-
-
0036853028
-
Glycogen stored in skeletal but not in cardiac muscle in acid α-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme
-
RABEN N, JATKAR T, LEE A et al.: Glycogen stored in skeletal but not in cardiac muscle in acid α-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme. Mol. Ther. (2002) 6(5):601-608.
-
(2002)
Mol. Ther.
, vol.6
, Issue.5
, pp. 601-608
-
-
Raben, N.1
Jatkar, T.2
Lee, A.3
-
76
-
-
0030908645
-
Enzyme therapy in Gaucher disease Type 1: Effect of neutralizing antibodies to acid β-glucosidase
-
PONCE E, MOSKOVITZ J, GRABOWSKI G: Enzyme therapy in Gaucher disease Type 1: effect of neutralizing antibodies to acid β-glucosidase. Blood (1997) 90(1):43-48.
-
(1997)
Blood
, vol.90
, Issue.1
, pp. 43-48
-
-
Ponce, E.1
Moskovitz, J.2
Grabowski, G.3
-
77
-
-
0035163539
-
Fabry disease: Preclinical studies demonstrate the effectiveness of α-galactosidase A replacement in enzyme-deficient mice
-
IOANNOU YA, ZEIDNER KM, GORDON RE, DESNICK RJ: Fabry disease: preclinical studies demonstrate the effectiveness of α-galactosidase A replacement in enzyme-deficient mice. Am. J. Hum. Genet. (2001) 68(1):14-25.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, Issue.1
, pp. 14-25
-
-
Ioannou, Y.A.1
Zeidner, K.M.2
Gordon, R.E.3
Desnick, R.J.4
-
78
-
-
0042354624
-
X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease
-
DVIR H, HAREL M, MCCARTHY AA, TOKER L: X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep. (2003) 4(7):1-6.
-
(2003)
EMBO Rep.
, vol.4
, Issue.7
, pp. 1-6
-
-
Dvir, H.1
Harel, M.2
Mccarthy, A.A.3
Toker, L.4
-
79
-
-
0036436320
-
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
THURBERG BL, RENNKE H, COLVIN RB et al.: Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. (2002) 62(6):1933-1946.
-
(2002)
Kidney Int.
, vol.62
, Issue.6
, pp. 1933-1946
-
-
Thurberg, B.L.1
Rennke, H.2
Colvin, R.B.3
-
80
-
-
0037762569
-
Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases
-
(1433)
-
PAGANO RE: Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases. Philos. Trans. R. Soc. Lond. B. Biol. Sci. (2003) 358(1433):885-891.
-
(2003)
Philos. Trans. R. Soc. Lond. B. Biol. Sci.
, vol.358
, pp. 885-891
-
-
Pagano, R.E.1
-
81
-
-
0042163785
-
Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice
-
REID PC, SUGII S, CHANG TY: Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice. J. Lipid Res. (2003) 44(5):1010-1019.
-
(2003)
J. Lipid. Res.
, vol.44
, Issue.5
, pp. 1010-1019
-
-
Reid, P.C.1
Sugii, S.2
Chang, T.Y.3
-
82
-
-
0013192938
-
A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease
-
LEE K, JIN X, ZHANG K et al.: A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology (2003) 13(4):305-313.
-
(2003)
Glycobiology
, vol.13
, Issue.4
, pp. 305-313
-
-
Lee, K.1
Jin, X.2
Zhang, K.3
-
83
-
-
0033559287
-
Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: Induction of humoral tolerance in seroconverted patients after repeat administration
-
ROSENBERG M, KINGMA W, FITZPATRICK MA, RICHARDS SM: Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood (1999) 93(6):2081-2088.
-
(1999)
Blood
, vol.93
, Issue.6
, pp. 2081-2088
-
-
Rosenberg, M.1
Kingma, W.2
Fitzpatrick, M.A.3
Richards, S.M.4
-
84
-
-
0031290143
-
Management of neutralizing antibody to Ceredase in a patient with Type 3 Gaucher disease
-
BRADY RO, MURRAY GJ, OLIVER KL: Management of neutralizing antibody to Ceredase in a patient with Type 3 Gaucher disease. Pediatrics (1997) 100(6):E11.
-
(1997)
Pediatrics
, vol.100
, Issue.6
-
-
Brady, R.O.1
Murray, G.J.2
Oliver, K.L.3
-
85
-
-
0034912891
-
Neuronopathic Gaucher disease task force of the european working group on gaucher disease. Management of neuronopathic Gaucher disease: A European consensus
-
VELLODI A, BEMBI B, DE VILLEMEUR TB et al.: Neuronopathic Gaucher disease task force of the european working group on gaucher disease. Management of neuronopathic Gaucher disease: a European consensus. J. Inherit. Metab. Dis. (2001) 24(3):319-327.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.3
, pp. 319-327
-
-
Vellodi, A.1
Bembi, B.2
De Villemeur, T.B.3
-
86
-
-
0037378110
-
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis
-
JEYAKUMAR M, THOMAS R, ELLIOT-SMITH E et al.: Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain (2003) 126(Pt 4):974-987.
-
(2003)
Brain
, vol.126
, Issue.PART 4
, pp. 974-987
-
-
Jeyakumar, M.1
Thomas, R.2
Elliot-Smith, E.3
-
87
-
-
0037093476
-
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
-
MYEROWITZ R, LAWSON D, MIZUKAMI H, MI Y, TIFFT CJ, PROIA RL: Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum. Mol. Genet. (2002) II(11):1343-1350.
-
(2002)
Hum. Mol. Genet.
, vol.2
, Issue.11
, pp. 1343-1350
-
-
Myerowitz, R.1
Lawson, D.2
Mizukami, H.3
Mi, Y.4
Tifft, C.J.5
Proia, R.L.6
-
88
-
-
0036251767
-
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage
-
MIZUKAMI H, MI Y, WADA R et al.: Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. J. Clin. Invest. (2002) 9(9):1215-1221.
-
(2002)
J. Clin. Invest.
, vol.9
, Issue.9
, pp. 1215-1221
-
-
Mizukami, H.1
Mi, Y.2
Wada, R.3
-
89
-
-
0034935252
-
Selective arterial distribution of cerebral hyperperfusion in Fabry disease
-
MOORE DF, HERSCOVITCH P, SCHIFFMANN R: Selective arterial distribution of cerebral hyperperfusion in Fabry disease. J. Neuroimaging (2001) 11(3):303-307.
-
(2001)
J. Neuroimaging
, vol.11
, Issue.3
, pp. 303-307
-
-
Moore, D.F.1
Herscovitch, P.2
Schiffmann, R.3
-
90
-
-
18244397953
-
Cerebrovascular hyperdynamicity in Fabry disease with reversal following enzyme replacement therapy
-
MOORE DF; ALTARESCU A, LING GSF et al.: Cerebrovascular hyperdynamicity in Fabry disease with reversal following enzyme replacement therapy. Stroke (2002) 33(2):525-531.
-
(2002)
Stroke
, vol.33
, Issue.2
, pp. 525-531
-
-
Moore, D.F.1
Altarescu, A.2
Ling, G.S.F.3
-
91
-
-
0035949721
-
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: Reversal by enzyme replacement therapy
-
MOORE DF, SCOTT IT, GLADWIN MT et al.: Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation (2001) 104(13):1506-1512.
-
(2001)
Circulation
, vol.104
, Issue.13
, pp. 1506-1512
-
-
Moore, D.F.1
Scott, I.T.2
Gladwin, M.T.3
-
92
-
-
0036144376
-
Targeting neurotherapeutic agents through the blood-brain barrier
-
PARDRIDGE WM: Targeting neurotherapeutic agents through the blood-brain barrier. Arch. Neurol. (2002) 59(1):35-40.
-
(2002)
Arch. Neurol.
, vol.59
, Issue.1
, pp. 35-40
-
-
Pardridge, W.M.1
-
93
-
-
0034897979
-
Prenatal genetic screening in the Ashkenazi Jewish population
-
ZINBERG RE, KORNREICH R, EDELMANN L, DESNICK RJ: Prenatal genetic screening in the Ashkenazi Jewish population. Clin. Perinatol. (2001) 28(2):367-382.
-
(2001)
Clin. Perinatol.
, vol.28
, Issue.2
, pp. 367-382
-
-
Zinberg, R.E.1
Kornreich, R.2
Edelmann, L.3
Desnick, R.J.4
-
94
-
-
0033302183
-
Newborn screening for lysosomal storage disorders
-
MEIKLE PJ, RANIERI E, RAVENSCROFT EM, HUA CT, BROOKS DA, HOPWOOD JJ: Newborn screening for lysosomal storage disorders. Southeast Asian J. Trop. Med. Public Health (1999) 30(Suppl.2):104-110.
-
(1999)
Southeast Asian J. Trop. Med. Public Health
, vol.30
, Issue.SUPPL. 2
, pp. 104-110
-
-
Meikle, P.J.1
Ranieri, E.2
Ravenscroft, E.M.3
Hua, C.T.4
Brooks, D.A.5
Hopwood, J.J.6
-
95
-
-
0035684015
-
New proteins from old diseases provide novel insights in cell biology
-
WALKLEY SU: New proteins from old diseases provide novel insights in cell biology. Curr. Opin. Neurol. (2001) 14(6):805-810.
-
(2001)
Curr. Opin. Neurol.
, vol.14
, Issue.6
, pp. 805-810
-
-
Walkley, S.U.1
-
96
-
-
0035928841
-
Critical role for glycosphingolipids in Niemann-Pick disease type C
-
ZERVAS M, SOMERS KL, THRALL MA, WALKLEY SU: Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr. Biol. (2001) 11(16):1283-1287.
-
(2001)
Curr. Biol.
, vol.11
, Issue.16
, pp. 1283-1287
-
-
Zervas, M.1
Somers, K.L.2
Thrall, M.A.3
Walkley, S.U.4
-
97
-
-
0034755958
-
Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
-
MILLAT G, CHIKH K, NAURECKIENE S, SLEAT DE et al.: Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am. J. Hum. Genet. (2001) 69(5):1013-1021.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, Issue.5
, pp. 1013-1021
-
-
Millat, G.1
Chikh, K.2
Naureckiene, S.3
Sleat, D.E.4
-
98
-
-
0038725707
-
It's the prices, stupid: Why the United States is so different from other countries
-
ANDERSON GF, RELNHARDT UE, HUSSEY PS, PETROSYAN V: It's the prices, stupid: why the United States is so different from other countries. Health Aff. (Millwood). (2003) 22(3):89-105.
-
(2003)
Health Aff. (Millwood)
, vol.22
, Issue.3
, pp. 89-105
-
-
Anderson, G.F.1
Relnhardt, U.E.2
Hussey, P.S.3
Petrosyan, V.4
-
99
-
-
0042792605
-
-
The World Health Report. World health organisation, Geneva, Switzerland
-
The World Health Report. World health organisation, Geneva, Switzerland (2002).
-
(2002)
-
-
-
100
-
-
0041790460
-
Strategy: Making Genzyme bigger
-
YANG W, HAAN K: Strategy: making Genzyme bigger. Biotech. Century (2003) 11(10):2193-2203.
-
(2003)
Biotech. Century
, vol.11
, Issue.10
, pp. 2193-2203
-
-
Yang, W.1
Haan, K.2
-
101
-
-
0037762577
-
How to dance with porcupines: Rules and guidelines on doctors' relations with drug companies
-
(7400)
-
WAGER E: How to dance with porcupines: rules and guidelines on doctors' relations with drug companies. Br. Med. J. (2003) 326(7400):1196-1198.
-
(2003)
Br. Med. J.
, vol.326
, pp. 1196-1198
-
-
Wager, E.1
|