-
1
-
-
73649187940
-
Alpha-glucosidose deficiency in generalized glycogen storage disease (Pompe's disease)
-
Hers HG. Alpha-glucosidose deficiency in generalized glycogen storage disease (Pompe's disease). Biochem J 1963; 86: 11-6.
-
(1963)
Biochem J
, vol.86
, pp. 11-16
-
-
Hers, H.G.1
-
2
-
-
50549198437
-
Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease
-
Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 1965; 18: 221-5.
-
(1965)
Biochem Biophys Res Commun
, vol.18
, pp. 221-225
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
3
-
-
0014939802
-
Inborn errors of mucopolysaccharide metabolism
-
Neufeld EF, Fratantoni JC. Inborn errors of mucopolysaccharide metabolism. Science 1970; 169: 141-6.
-
(1970)
Science
, vol.169
, pp. 141-146
-
-
Neufeld, E.F.1
Fratantoni, J.C.2
-
4
-
-
0032910315
-
Gaucher's disease: A model for modern management of a genetic disease
-
Mistry PK. Gaucher's disease: a model for modern management of a genetic disease. J Hepatol 1999; 30 (suppl 1): 1-5.
-
(1999)
J Hepatol
, vol.30
, Issue.SUPPL. 1
, pp. 1-5
-
-
Mistry, P.K.1
-
5
-
-
1242318577
-
Gaucher's disease: A paradigm for interventional genetics
-
Germain DP. Gaucher's disease: a paradigm for interventional genetics. Clin Genet 2004; 65: 77-86
-
(2004)
Clin Genet
, vol.65
, pp. 77-86
-
-
Germain, D.P.1
-
6
-
-
0018868190
-
Receptor-mediated pinocytosis of mannose glycoconjugates by macrophages: Characterization and evidence for receptor recycling
-
Stahl P, Schlesinger PH, Sigardson E, et al. Receptor-mediated pinocytosis of mannose glycoconjugates by macrophages: characterization and evidence for receptor recycling. Cell 1980; 19: 207-15.
-
(1980)
Cell
, vol.19
, pp. 207-215
-
-
Stahl, P.1
Schlesinger, P.H.2
Sigardson, E.3
-
7
-
-
0025236339
-
Therapeutic response to intravenous infusions of glucacerebrosidase in a patient with Gaucher disease
-
Barton NW, Furbish FS, Murray GJ, et al. Therapeutic response to intravenous infusions of glucacerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 1990; 87: 1913-6.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1913-1916
-
-
Barton, N.W.1
Furbish, F.S.2
Murray, G.J.3
-
8
-
-
0028883136
-
Enzyme therapy in type 1 Gaucher disease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
-
Grabowski G, Barton NM, 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: 33-9.
-
(1995)
Ann Intern Med
, vol.122
, pp. 33-39
-
-
Grabowski, G.1
Barton, N.M.2
Pastores, G.3
-
9
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
Pastores G, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004; 41: 4-14.
-
(2004)
Semin Hematol
, vol.41
, pp. 4-14
-
-
Pastores, G.1
Weinreb, N.J.2
Aerts, H.3
-
10
-
-
4744358540
-
Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients
-
Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004; 41: 15-22.
-
(2004)
Semin Hematol
, vol.41
, pp. 15-22
-
-
Weinreb, N.J.1
Aggio, M.C.2
Andersson, H.C.3
-
11
-
-
0029066515
-
Individualised low-dose alglucerase therapy for type 1 Gaucher's disease
-
Hollak CM, Aerts J, Goudsmit R, et al. Individualised low-dose alglucerase therapy for type 1 Gaucher's disease. Lancet 1995; 345: 1474-8.
-
(1995)
Lancet
, vol.345
, pp. 1474-1478
-
-
Hollak, C.M.1
Aerts, J.2
Goudsmit, R.3
-
12
-
-
20944439209
-
Individualization of long-term enzyme replacement therapy for Gaucher disease
-
Andersson HC, Charron J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med 2005; 7: 105-10.
-
(2005)
Genet Med
, vol.7
, pp. 105-110
-
-
Andersson, H.C.1
Charron, J.2
Kaplan, P.3
-
13
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox TM, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000; 355: 1481-5.
-
(2000)
Lancet
, vol.355
, pp. 1481-1485
-
-
Cox, T.M.1
Lachmann, R.2
Hollak, C.3
-
15
-
-
0031926575
-
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
-
Guffon N, Souillet G, Maire I, et al. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 1998; 133: 119-25.
-
(1998)
J Pediatr
, vol.133
, pp. 119-125
-
-
Guffon, N.1
Souillet, G.2
Maire, I.3
-
16
-
-
2342666229
-
Enzyme replacement therapy for mucopalysaccharidasis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
-
Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopalysaccharidasis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144: 581-8.
-
(2004)
J Pediatr
, vol.144
, pp. 581-588
-
-
Wraith, J.E.1
Clarke, L.A.2
Beck, M.3
-
17
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis I
-
Kakkis E, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344: 182-8.
-
(2001)
N Engl J Med
, vol.344
, pp. 182-188
-
-
Kakkis, E.1
Muenzer, J.2
Tiller, G.E.3
-
18
-
-
15944374314
-
Laronidase treatment of mucopolysaccharidosis I
-
Wraith JE, Hopwood J, Fuller M, et al. Laronidase treatment of mucopolysaccharidosis I. BioDrugs 2005; 19: 1-7.
-
(2005)
BioDrugs
, vol.19
, pp. 1-7
-
-
Wraith, J.E.1
Hopwood, J.2
Fuller, M.3
-
19
-
-
0029885020
-
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
-
Litjens T, Brooks DA, Peters C, et al. Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Am J Hum Genet 1996; 58: 1127-34.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1127-1134
-
-
Litjens, T.1
Brooks, D.A.2
Peters, C.3
-
20
-
-
0032988760
-
Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): Long-term follow-up
-
Herskhovitz E, Young E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis 1999; 22: 50-62.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 50-62
-
-
Herskhovitz, E.1
Young, E.2
Rainer, J.3
-
21
-
-
1542669902
-
Enzyme replacement therapy in mucopolysaccharidasis VI (Maroteaux-Lamy syndrome)
-
Harmatz P, Chester B, Whitley CB, et al. Enzyme replacement therapy in mucopolysaccharidasis VI (Maroteaux-Lamy syndrome). J Pediatr 2004; 144: 574-80.
-
(2004)
J Pediatr
, vol.144
, pp. 574-580
-
-
Harmatz, P.1
Chester, B.2
Whitley, C.B.3
-
22
-
-
27744493202
-
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase
-
Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005; 115: e681-9.
-
(2005)
Pediatrics
, vol.115
-
-
Harmatz, P.1
Ketteridge, D.2
Giugliani, R.3
-
23
-
-
29944440993
-
Galsulfase: Arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB
-
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. Drugs RD 2005; 6: 312-5.
-
(2005)
Drugs RD
, vol.6
, pp. 312-315
-
-
-
24
-
-
0347093304
-
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: Implications for Niemann-Pick disease enzyme replacement therapy
-
Dhami GK, Babwah AV, Sterne-Marr R, Ferguson SS. Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. J Biol Chem 2004; 279: 1526-32.
-
(2004)
J Biol Chem
, vol.279
, pp. 1526-1532
-
-
Dhami, G.K.1
Babwah, A.V.2
Sterne-Marr, R.3
Ferguson, S.S.4
-
25
-
-
2342537868
-
Pompe disease in infants and children
-
Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004; 144: S3S-43.
-
(2004)
J Pediatr
, vol.144
-
-
Kishnani, P.S.1
Howell, R.R.2
-
26
-
-
0034729963
-
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
-
Van den Haut H, Reuser AJJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000; 356: 397-8.
-
(2000)
Lancet
, vol.356
, pp. 397-398
-
-
Van Den Haut, H.1
Reuser, A.J.J.2
Vulto, A.G.3
-
27
-
-
15044345490
-
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: Results of a phase II clinical trial
-
Klinge L, Straub U, Neudorf J, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005; 15: 24-31.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 24-31
-
-
Klinge, L.1
Straub, U.2
Neudorf, J.3
-
28
-
-
2942570942
-
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
-
Van den Hout JM, Kamphoven JH, Winkel LP, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004; 113: e448-57.
-
(2004)
Pediatrics
, vol.113
-
-
Van Den Hout, J.M.1
Kamphoven, J.H.2
Winkel, L.P.3
-
29
-
-
19944383100
-
Replacing acid alpha-glucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
-
Raben N, Fukuda T, Gilbert AL, et al. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 2005; 11: 48-56.
-
(2005)
Mol Ther
, vol.11
, pp. 48-56
-
-
Raben, N.1
Fukuda, T.2
Gilbert, A.L.3
-
30
-
-
2942588994
-
Enzyme replacement and enhancement therapies for lysosomal diseases
-
Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 2004; 27: 385-410.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 385-410
-
-
Desnick, R.J.1
|