-
1
-
-
0018170526
-
Human β-glucuronidase: In vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells
-
Achord DT, Brot FE, Bell CE, Sly WS. 1978. Human β-glucuronidase: in vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells. Cell 15:269-78
-
(1978)
Cell
, vol.15
, pp. 269-278
-
-
Achord, D.T.1
Brot, F.E.2
Bell, C.E.3
Sly, W.S.4
-
2
-
-
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. 1997. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM 90:19-25
-
(1997)
QJM
, vol.90
, pp. 19-25
-
-
Allen, M.J.1
Myer, B.J.2
Khokher, A.M.3
Rushton, N.4
Cox, T.M.5
-
3
-
-
0034943172
-
Enhanced endothelium-dependent vasodilation in Fabry disease
-
Altarescu G, Moore DF, Pursley R, Campia U, Goldstein S, et al. 2001. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 32:1559-62
-
(2001)
Stroke
, vol.32
, pp. 1559-1562
-
-
Altarescu, G.1
Moore, D.F.2
Pursley, R.3
Campia, U.4
Goldstein, S.5
-
4
-
-
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, Majure JM, Case LE, et al. 2001. Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet. Med. 3:132-38
-
(2001)
Genet. Med.
, vol.3
, pp. 132-138
-
-
Amalfitano, A.1
Bengur, A.R.2
Morse, R.P.3
Majure, J.M.4
Case, L.E.5
-
6
-
-
0022894660
-
Biosynthesis, glycosylation, movement throught the golgi system and transport to lysosomes by N-linked carbohydrate independent mechanism of three lysosomal integral membrane proteins
-
Barriocanal JG, Bonifacino JS, Yuan L, Sandoval IV. 1986. Biosynthesis, glycosylation, movement throught the golgi system and transport to lysosomes by N-linked carbohydrate independent mechanism of three lysosomal integral membrane proteins. J. Biol. Chem. 261: 1604-7
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 1604-1607
-
-
Barriocanal, J.G.1
Bonifacino, J.S.2
Yuan, L.3
Sandoval, I.V.4
-
7
-
-
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, et al. 1991. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med. 324:1464-70
-
(1991)
N. Engl. J. Med.
, 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
-
8
-
-
0026601704
-
Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease
-
Barton NW, Brady RO, Dambrosia JM, Doppelt SH, Hill SC, et al. 1992. Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease. J. Pediatr. 120: 277-80
-
(1992)
J. Pediatr.
, vol.120
, pp. 277-280
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
Doppelt, S.H.4
Hill, S.C.5
-
9
-
-
0025831078
-
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
-
Beutler E, Gelbart T, Kuhl W, Sorge J, West C. 1991. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc. Natl. Acad. Sci. USA 88:10544-47
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 10544-10547
-
-
Beutler, E.1
Gelbart, T.2
Kuhl, W.3
Sorge, J.4
West, C.5
-
10
-
-
0000216808
-
Gaucher disease
-
ed. CR Scriver, AL Beaudet, WS Sly, D Valle, New York: McGraw-Hill
-
Beutler E, Grabowski GA. 2001. Gaucher disease. In The Metabolic & Molecular Bases of Inherited Diseases, ed. CR Scriver, AL Beaudet, WS Sly, D Valle, 3635-68. New York: McGraw-Hill
-
(2001)
The Metabolic & Molecular Bases of Inherited Diseases
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
11
-
-
0026014938
-
Enzyme replacement therapy for Gaucher disease
-
Beutler E, Kay A, Saven A, Garver P, Thurston D, et al. 1991. Enzyme replacement therapy for Gaucher disease. Blood 78:1183-89
-
(1991)
Blood
, vol.78
, pp. 1183-1189
-
-
Beutler, E.1
Kay, A.2
Saven, A.3
Garver, P.4
Thurston, D.5
-
12
-
-
0027394416
-
Gaucher disease: Gene frequencies in the Ashkenazi Jewish population
-
Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, et al. 1993. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am. J. Hum. Genet. 52:85-88
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 85-88
-
-
Beutler, E.1
Nguyen, N.J.2
Henneberger, M.W.3
Smolec, J.M.4
McPherson, R.A.5
-
13
-
-
0029664406
-
Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells
-
Bijsterbosch MK, Donker W, van de Bilt H, Van Weely S, van Berkel TJ, Aerts JM. 1996. Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells. Eur. J. Biochem. 237: 344-49
-
(1996)
Eur. J. Biochem.
, vol.237
, pp. 344-349
-
-
Bijsterbosch, M.K.1
Donker, W.2
Van De Bilt, H.3
Van Weely, S.4
Van Berkel, T.J.5
Aerts, J.M.6
-
14
-
-
0036759801
-
Croatian population data for arylsulfatase A pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome
-
Bognar SK, Furac I, Kubat M, Cosovic C, Demarin V. 2002. Croatian population data for arylsulfatase A pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome. Arch. Med. Res. 33:473-77
-
(2002)
Arch. Med. Res.
, vol.33
, pp. 473-477
-
-
Bognar, S.K.1
Furac, I.2
Kubat, M.3
Cosovic, C.4
Demarin, V.5
-
15
-
-
0029135190
-
Pathologic findings in Gaucher disease type 2 patients following enzyme therapy
-
Bove K, Daughtery C, Grabowski GA. 1995. Pathologic findings in Gaucher disease type 2 patients following enzyme therapy. Hum. Pathol. 26:1040-45
-
(1995)
Hum. Pathol.
, vol.26
, pp. 1040-1045
-
-
Bove, K.1
Daughtery, C.2
Grabowski, G.A.3
-
16
-
-
0031290143
-
Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease
-
Brady RO, Murray GJ, Oliver KL, Leitman SF, Sneller MC 1997. Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease. Pediatrics 100:E11
-
(1997)
Pediatrics
, vol.100
-
-
Brady, R.O.1
Murray, G.J.2
Oliver, K.L.3
Leitman, S.F.4
Sneller, M.C.5
-
17
-
-
0024845390
-
Lysosomal acid phosphatase is transported to lysosomes via the cell surface
-
Braun M, Waheed A, von Figura K. 1989. Lysosomal acid phosphatase is transported to lysosomes via the cell surface. EMBO J. 8:3633-40
-
(1989)
EMBO J.
, vol.8
, pp. 3633-3640
-
-
Braun, M.1
Waheed, A.2
Von Figura, K.3
-
18
-
-
4243534621
-
Clinical benefit of enzyme replacement therapy in seven severely affected Fabry patients after one year of treatment
-
Nov. 8-9
-
Breunig F, Weidemann F, Strotmann J, Beer M, Eggert A, et al. 2002. Clinical benefit of enzyme replacement therapy in seven severely affected Fabry patients after one year of treatment. Eur. Symp. Fabry Dis. Nov. 8-9:P24
-
(2002)
Eur. Symp. Fabry Dis.
-
-
Breunig, F.1
Weidemann, F.2
Strotmann, J.3
Beer, M.4
Eggert, A.5
-
19
-
-
0031965513
-
Sterol regulatory element binding proteins (SREBPs): Controllers of lipid synthesis and cellular uptake
-
Brown MS, Goldstein JL. 1998. Sterol regulatory element binding proteins (SREBPs): controllers of lipid synthesis and cellular uptake. Nutr. Rev. 56:S1-3; discussion S54-75
-
(1998)
Nutr. Rev.
, vol.56
-
-
Brown, M.S.1
Goldstein, J.L.2
-
20
-
-
0032413781
-
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies
-
Bunge S, Clements PR, Byers S, Kleijer WJ, Brooks DA, Hopwood JJ. 1998. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies. Biochim. Biophys. Acta 1407:249-56
-
(1998)
Biochim. Biophys. Acta
, vol.1407
, pp. 249-256
-
-
Bunge, S.1
Clements, P.R.2
Byers, S.3
Kleijer, W.J.4
Brooks, D.A.5
Hopwood, J.J.6
-
21
-
-
0034626360
-
The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease
-
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. 2000. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch. Int. Med. 160: 2835-43
-
(2000)
Arch. Int. Med.
, vol.160
, pp. 2835-2843
-
-
Charrow, J.1
Andersson, H.C.2
Kaplan, P.3
Kolodny, E.H.4
Mistry, P.5
-
22
-
-
0021085107
-
Partial enzyme deficiencies: Residual activities and the development of neurological disorders
-
Conzelmann E, Sandhoff K. 1983. Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev. Neurosci. 6:58-71
-
(1983)
Dev. Neurosci.
, vol.6
, pp. 58-71
-
-
Conzelmann, E.1
Sandhoff, K.2
-
23
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT918) to decrease substrate biosynthesis
-
Cox T, Lachmann R, Hollak C, Aerts JFGM, Van Weely S, et al. 2000. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT918) to decrease substrate biosynthesis. Lancet 355:1481-85
-
(2000)
Lancet
, vol.355
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
Aerts, J.F.G.M.4
Van Weely, S.5
-
24
-
-
0023658301
-
46 kd mannose 6-phosphate receptor: Cloning, expression, and homology to the 215 kd mannose 6-phosphate receptor
-
Dahms NM, Lobel P, Breitmeyer J, Chirgwin JM, Kornfeld S. 1987. 46 kd mannose 6-phosphate receptor: cloning, expression, and homology to the 215 kd mannose 6-phosphate receptor. Cell 50: 181-92
-
(1987)
Cell
, vol.50
, pp. 181-192
-
-
Dahms, N.M.1
Lobel, P.2
Breitmeyer, J.3
Chirgwin, J.M.4
Kornfeld, S.5
-
25
-
-
0021040946
-
Lysosomes revisited
-
deDuve C. 1983. Lysosomes revisited. Eur. J. Biochem. 137:391
-
(1983)
Eur. J. Biochem.
, vol.137
, pp. 391
-
-
DeDuve, C.1
-
27
-
-
0025784561
-
Comparative behavior of lysosomes and the pre-lysosome compartment (PLC) in in vivo cell fusion experiments
-
Deng YP, Griffiths G, Storrie B. 1991. Comparative behavior of lysosomes and the pre-lysosome compartment (PLC) in in vivo cell fusion experiments. J. Cell Sci. 99 (Pt 3):571-82
-
(1991)
J. Cell Sci.
, vol.99
, Issue.3 PT
, pp. 571-582
-
-
Deng, Y.P.1
Griffiths, G.2
Storrie, B.3
-
28
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick RJ, Brady RO, Barranger AJ, Collins AJ, Germain DP, et al. 2003. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann. Intern. Med. 138:338-46
-
(2003)
Ann. Intern. Med.
, vol.138
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.O.2
Barranger, A.J.3
Collins, A.J.4
Germain, D.P.5
-
29
-
-
0000889058
-
α-galactosidase A Deficiency: Fabry disease
-
ed. CR Scriver, AL Beaudet, WS Sly, D Valle, New York: McGraw-Hill
-
Desnick RJ, Ioannou Y, Eng CM. 2001. α-galactosidase A Deficiency: Fabry disease. In The Metabolic & Molecular Bases of Inherited Disease, ed. CR Scriver, AL Beaudet, WS Sly, D Valle, 3733-74. New York: McGraw-Hill
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.2
Eng, C.M.3
-
30
-
-
0037012907
-
Regulation of SREBP processing and membrane lipid production by phospholipids in Drosophila
-
Dobrosotskaya IY, Seegmiller AC, Brown MS, Goldstein JL, Rawson RB. 2002. Regulation of SREBP processing and membrane lipid production by phospholipids in Drosophila. Science 296:879-83
-
(2002)
Science
, vol.296
, pp. 879-883
-
-
Dobrosotskaya, I.Y.1
Seegmiller, A.C.2
Brown, M.S.3
Goldstein, J.L.4
Rawson, R.B.5
-
31
-
-
0019941616
-
Enhanced macrophage uptake of synthetically glycosylated human placental β-glucocerebrosidase
-
Doebber TW, Wu MS, Bugianesi RL, Ponpipom MM, Furbish FS, et al. 1982. Enhanced macrophage uptake of synthetically glycosylated human placental β-glucocerebrosidase. J. Biol. Chem. 257:2193-99
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 2193-2199
-
-
Doebber, T.W.1
Wu, M.S.2
Bugianesi, R.L.3
Ponpipom, M.M.4
Furbish, F.S.5
-
32
-
-
0035423329
-
Enzyme therapy for lysosomal acid lipase deficiency in the mouse
-
Du H, Schiavi S, Levine M, Mishra J, Heur M, Grabowski GA. 2001. Enzyme therapy for lysosomal acid lipase deficiency in the mouse. Hum. Mol. Genet. 10:1639-48
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1639-1648
-
-
Du, H.1
Schiavi, S.2
Levine, M.3
Mishra, J.4
Heur, M.5
Grabowski, G.A.6
-
33
-
-
0242711924
-
Biodistribution and cellular localization of recombinant α-galactosidase A: A comparison of Fabrazyme and Replagal
-
Edmunds T, Piepenhagen P, Copertino L, Nickerson C, Andrews L. 2002. Biodistribution and cellular localization of recombinant α-galactosidase A: a comparison of Fabrazyme and Replagal. Am. J. Hum. Genet. 71:581
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 581
-
-
Edmunds, T.1
Piepenhagen, P.2
Copertino, L.3
Nickerson, C.4
Andrews, L.5
-
35
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in fabry disease: Pharmacokinetic, substrate clearance, and safety studies
-
Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, et al. 2001. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am. J. Hum. Genet. 68:711-22
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.E.3
Goldman, M.4
Phelps, R.5
-
36
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase A-replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, et al. 2001. Safety and efficacy of recombinant human α-galactosidase A-replacement therapy in Fabry's disease. N. Engl. J. Med. 345:9-16
-
(2001)
N. Engl. J. Med.
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
-
37
-
-
0036106324
-
Morphogen gradient formation and vesicular trafficking
-
Entchev EV, Gonzalez-Gaitan MA. 2002. Morphogen gradient formation and vesicular trafficking. Traffic 3:98-109
-
(2002)
Traffic
, vol.3
, pp. 98-109
-
-
Entchev, E.V.1
Gonzalez-Gaitan, M.A.2
-
38
-
-
0014567351
-
The defect in Hurler and Hunter syndromes II: Deficiency of specific factors involved in mucopolysaccharide degradation
-
Fratantoni JC, Hall CW, Neufeld EF. 1969. The defect in Hurler and Hunter syndromes II: deficiency of specific factors involved in mucopolysaccharide degradation. Proc. Natl. Acad. Sci. USA 64:360
-
(1969)
Proc. Natl. Acad. Sci. USA
, vol.64
, pp. 360
-
-
Fratantoni, J.C.1
Hall, C.W.2
Neufeld, E.F.3
-
39
-
-
0017872552
-
The uptake of native and desialylated glucocerebrosidase by rat hepatocytes and Kupffer cells
-
Furbish FS, Steer CJ, Barranger JA, Jones EA, Brady RO. 1978. The uptake of native and desialylated glucocerebrosidase by rat hepatocytes and Kupffer cells. Biochem. Biophys. Res. Commun. 81:1047-53
-
(1978)
Biochem. Biophys. Res. Commun.
, vol.81
, pp. 1047-1053
-
-
Furbish, F.S.1
Steer, C.J.2
Barranger, J.A.3
Jones, E.A.4
Brady, R.O.5
-
40
-
-
0015093712
-
Nervous system in Pompe's disease. Ultrastructure and biochemistry
-
Gambetti P, DiMauro S, Baker L. 1971. Nervous system in Pompe's disease. Ultrastructure and biochemistry. J. Neuropathol. Exp. Neurol. 30:412-30
-
(1971)
J. Neuropathol. Exp. Neurol.
, vol.30
, pp. 412-430
-
-
Gambetti, P.1
Dimauro, S.2
Baker, L.3
-
41
-
-
0035537937
-
A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant
-
Germain DP. 2001. A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib. Nephrol. 34-40
-
(2001)
Contrib. Nephrol.
, pp. 34-40
-
-
Germain, D.P.1
-
42
-
-
0026356364
-
Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy
-
Gieselmann V, Fluharty AL, Tonnesen T, Von Figura K. 1991. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am. J. Hum. Genet. 49:407-13
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 407-413
-
-
Gieselmann, V.1
Fluharty, A.L.2
Tonnesen, T.3
Von Figura, K.4
-
43
-
-
0024409026
-
Arylsulfatase a pseudodeficiency: Loss of a polyadenylylation signal and N-glycosylation site
-
Gieselmann V, Polten A, Kreysing J, von Figura K. 1989. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. Proc. Natl. Acad. Sci. USA 86:9436-40
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 9436-9440
-
-
Gieselmann, V.1
Polten, A.2
Kreysing, J.3
Von Figura, K.4
-
44
-
-
0033491059
-
Utilization of the indirect lysosome targeting pathway by lysosome-associated membrane proteins (LAMPs) is influenced largely by the C-terminal residue of their GYXXphi targeting signals
-
Gough NR, Zweifel ME, Martinez-Augustin O, Aguilar RC, Bonifacino JS, Fambrough DM. 1999. Utilization of the indirect lysosome targeting pathway by lysosome-associated membrane proteins (LAMPs) is influenced largely by the C-terminal residue of their GYXXphi targeting signals. J. Cell Sci. 112:4257-69
-
(1999)
J. Cell Sci.
, vol.112
, pp. 4257-4269
-
-
Gough, N.R.1
Zweifel, M.E.2
Martinez-Augustin, O.3
Aguilar, R.C.4
Bonifacino, J.S.5
Fambrough, D.M.6
-
45
-
-
0031868229
-
Enzyme therapy in Gaucher disease: The first five years
-
Grabowski GA, Leslie N, Wenstrup RJ. 1998. Enzyme therapy in Gaucher disease: the first five years. Blood Rev. 12: 115-33
-
(1998)
Blood Rev.
, vol.12
, pp. 115-133
-
-
Grabowski, G.A.1
Leslie, N.2
Wenstrup, R.J.3
-
46
-
-
0037135626
-
The Ceramide-centric universe of lipid-mediated cell regulation: Stress encounters of the lipid kind
-
Hannun YA, Obeid LM. 2002. The Ceramide-centric universe of lipid-mediated cell regulation: stress encounters of the lipid kind. J. Biol. Chem. 277:25847-50
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 25847-25850
-
-
Hannun, Y.A.1
Obeid, L.M.2
-
48
-
-
0000995321
-
Glycogen Storage Disease Type II: Acid α-glucosidase (Acid Maltase) Deficiency
-
ed. CR Scriver, A Beaudet, W Sly, D Valle, New York: McGraw-Hill
-
Hirschhorn R, Reuser AJJ. 2001. Glycogen Storage Disease Type II: acid α-glucosidase (Acid Maltase) Deficiency. In The Metabolic & Molecular Bases of Inherited Disease, ed. CR Scriver, A Beaudet, W Sly, D Valle, 3389-420. New York: McGraw-Hill
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, pp. 3389-3420
-
-
Hirschhorn, R.1
Reuser, A.J.J.2
-
49
-
-
0023751677
-
Probable metachromatic leukodystrophy/ pseudodeficiency compound heterozygote at the arylsulfatase a locus with neurological and psychiatric symptomatology
-
Hohenschutz C, Friedl W, Schlor KH, Waheed A, Conzelmann E, et al. 1988. Probable metachromatic leukodystrophy/ pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology. Am. J. Med. Genet. 31:169-75
-
(1988)
Am. J. Med. Genet.
, vol.31
, pp. 169-175
-
-
Hohenschutz, C.1
Friedl, W.2
Schlor, K.H.3
Waheed, A.4
Conzelmann, E.5
-
50
-
-
0036251153
-
SREBPs: Activators of the complete program of cholesterol and fatty acid synthesis in the liver
-
Horton JD, Goldstein JL, Brown MS. 2002. SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver. J. Clin. Invest. 109: 1125-31
-
(2002)
J. Clin. Invest.
, vol.109
, pp. 1125-1131
-
-
Horton, J.D.1
Goldstein, J.L.2
Brown, M.S.3
-
51
-
-
0018634472
-
An electron microscope autoradiographic study of the carbohydrate recognition systems in rat liver
-
Hubbard AL, Wilson G, Ashwell G, Stukenbrok H. 1979. An electron microscope autoradiographic study of the carbohydrate recognition systems in rat liver. J. Cell Biol. 83:47-64
-
(1979)
J. Cell Biol.
, vol.83
, pp. 47-64
-
-
Hubbard, A.L.1
Wilson, G.2
Ashwell, G.3
Stukenbrok, H.4
-
52
-
-
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. 2001. Fabry disease: preclinical studies demonstrate the effectiveness of α-galactosidase A replacement in enzyme-deficient mice. Am. J. Hum. Genet. 68:14-25
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 14-25
-
-
Ioannou, Y.A.1
Zeidner, K.M.2
Gordon, R.E.3
Desnick, R.J.4
-
53
-
-
0036201584
-
Alternative splicing in the α-galactosidase a gene: Increased exon inclusion results in the Fabry cardiac phenotype
-
Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ. 2002. Alternative splicing in the α-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am. J. Hum. Genet. 70:994-1002
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 994-1002
-
-
Ishii, S.1
Nakao, S.2
Minamikawa-Tachino, R.3
Desnick, R.J.4
Fan, J.Q.5
-
54
-
-
0033060380
-
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin
-
Jeyakumar M, Butters TD, Cortina-Borja M, Hunnam V, Proia R, et al. 1999. Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc. Natl. Acad. Sci. USA 96:6388-93
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 6388-6393
-
-
Jeyakumar, M.1
Butters, T.D.2
Cortina-Borja, M.3
Hunnam, V.4
Proia, R.5
-
55
-
-
0035168688
-
Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation
-
Jeyakumar M, Norflus F, Tifft CJ, Cortina-Borja M, Butters TD, et al. 2001. Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood 97:327-29
-
(2001)
Blood
, vol.97
, pp. 327-329
-
-
Jeyakumar, M.1
Norflus, F.2
Tifft, C.J.3
Cortina-Borja, M.4
Butters, T.D.5
-
56
-
-
0035999743
-
Enzyme replacement therapy for the mucopolysaccharide storage disorders
-
Kakkis ED. 2002. Enzyme replacement therapy for the mucopolysaccharide storage disorders. Exp. Opin. Investig. Drugs 11:675-85
-
(2002)
Exp. Opin. Investig. Drugs
, vol.11
, pp. 675-685
-
-
Kakkis, E.D.1
-
57
-
-
0030221033
-
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I
-
Kakkis ED, McEntee MF, Schmidtchen A, Neufeld EF, Ward DA, et al. 1996. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem. Mol. Med. 58:156-67
-
(1996)
Biochem. Mol. Med.
, vol.58
, pp. 156-167
-
-
Kakkis, E.D.1
McEntee, M.F.2
Schmidtchen, A.3
Neufeld, E.F.4
Ward, D.A.5
-
58
-
-
0011596655
-
Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts
-
Kaplan A, Achord DT, Sly WS. 1977. Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts. Proc. Natl. Acad. Sci. USA 74:2026-30
-
(1977)
Proc. Natl. Acad. Sci. USA
, vol.74
, pp. 2026-2030
-
-
Kaplan, A.1
Achord, D.T.2
Sly, W.S.3
-
59
-
-
0026065442
-
Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: Differentiation of pseudodeficiency from metachromatic leukodystrophy
-
Kappler J, Watts RW, Conzelmann E, Gibbs DA, Propping P, Gieselmann V. 1991. Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy. Eur. J. Pediatr. 150:287-90
-
(1991)
Eur. J. Pediatr.
, vol.150
, pp. 287-290
-
-
Kappler, J.1
Watts, R.W.2
Conzelmann, E.3
Gibbs, D.A.4
Propping, P.5
Gieselmann, V.6
-
60
-
-
0030064683
-
Cerebral MR manifestations of Pompe disease in an infant
-
Lee CC, Chen CY, Chou TY, Chen FH, Zimmerman RA. 1996. Cerebral MR manifestations of Pompe disease in an infant. Am. J. Neuroradiol. 17:321-22
-
(1996)
Am. J. Neuroradiol.
, vol.17
, pp. 321-322
-
-
Lee, C.C.1
Chen, C.Y.2
Chou, T.Y.3
Chen, F.H.4
Zimmerman, R.A.5
-
61
-
-
0015045645
-
The storage cells of chronic myelogenous leukemia
-
Lee RE, Ellis LD. 1971. The storage cells of chronic myelogenous leukemia. Lab. Investig. 24:261-64
-
(1971)
Lab. Investig.
, vol.24
, pp. 261-264
-
-
Lee, R.E.1
Ellis, L.D.2
-
62
-
-
0037040350
-
Mannose receptor-mediated regulation of serum glycoprotein homeostasis
-
Lee SJ, Evers S, Roeder D, Parlow AF, Risteli J, et al. 2002. Mannose receptor-mediated regulation of serum glycoprotein homeostasis. Science 295:1898-901
-
(2002)
Science
, vol.295
, pp. 1898-1901
-
-
Lee, S.J.1
Evers, S.2
Roeder, D.3
Parlow, A.F.4
Risteli, J.5
-
63
-
-
0026572112
-
Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease
-
Leinekugel P, Michel S, Conzelmann E, Sandhoff K. 1992. Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum. Genet. 88:513-23
-
(1992)
Hum. Genet.
, vol.88
, pp. 513-523
-
-
Leinekugel, P.1
Michel, S.2
Conzelmann, E.3
Sandhoff, K.4
-
64
-
-
0024511029
-
Biosynthesis and processing of the mannose receptor in human macrophages
-
Lennartz MR, Cole FS, Stahl PD. 1989. Biosynthesis and processing of the mannose receptor in human macrophages. J. Biol. Chem. 264:2385-90
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 2385-2390
-
-
Lennartz, M.R.1
Cole, F.S.2
Stahl, P.D.3
-
65
-
-
0033795520
-
Fate and sorting of acid β-glucosidase in transgenic mammalian cells
-
Leonova T, Grabowski GA. 2000. Fate and sorting of acid β-glucosidase in transgenic mammalian cells. Mol. Genet. Metab. 70:281-94
-
(2000)
Mol. Genet. Metab.
, vol.70
, pp. 281-294
-
-
Leonova, T.1
Grabowski, G.A.2
-
67
-
-
0036695392
-
Ceramide regulation of apoptosis versus differentiation: A walk on a fine line. Lessons from neurobiology
-
Luberto C, Kraveka JM, Hannun YA. 2002. Ceramide regulation of apoptosis versus differentiation: a walk on a fine line. Lessons from neurobiology. Neurochem. Res. 27:609-17
-
(2002)
Neurochem. Res.
, vol.27
, pp. 609-617
-
-
Luberto, C.1
Kraveka, J.M.2
Hannun, Y.A.3
-
68
-
-
0033798464
-
Prevalence of arylsulfatase a pseudodeficiency allele in metachromatic leukodystrophy patients from Poland
-
Lugowska A, Czartoryska B, Tylki-Szymanska A, Bisko M, Zimowski JG, et al. 2000. Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland. Eur. Neurol. 44:104-7
-
(2000)
Eur. Neurol.
, vol.44
, pp. 104-107
-
-
Lugowska, A.1
Czartoryska, B.2
Tylki-Szymanska, A.3
Bisko, M.4
Zimowski, J.G.5
-
69
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
-
MacDermot KD, Holmes A, Miners AH. 2001. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J. Med. Genet. 38:769-75
-
(2001)
J. Med. Genet.
, vol.38
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
70
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
-
MacDermot KD, Holmes A, Miners AH. 2001. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J. Med. Genet. 38:750-60
-
(2001)
J. Med. Genet.
, vol.38
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
71
-
-
0037148787
-
Structural basis for acidic-cluster-dileucine sorting-signal recognition by VHS domains
-
Misra S, Puertollano R, Kato Y, Bonifacino JS, Hurley JH. 2002. Structural basis for acidic-cluster-dileucine sorting-signal recognition by VHS domains. Nature 415:933-37
-
(2002)
Nature
, vol.415
, pp. 933-937
-
-
Misra, S.1
Puertollano, R.2
Kato, Y.3
Bonifacino, J.S.4
Hurley, J.H.5
-
72
-
-
0036399154
-
Pulmonary hypertension in type 1 Gaucher's disease: Genetic and epigenetic determinants of phenotype and response to therapy
-
Mistry P, Sirrs S, Chan A, Pritzker M, Duffy T, et al. 2002. Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol. Genet. Metab. 77:91-98
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 91-98
-
-
Mistry, P.1
Sirrs, S.2
Chan, A.3
Pritzker, M.4
Duffy, T.5
-
73
-
-
0029845416
-
Therapeutic delivery of proteins to macrophages: Implications for treatment of Gaucher's disease
-
Mistry PK, Wraight EP, Cox TM. 1996. Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. Lancet 348:1555-59
-
(1996)
Lancet
, vol.348
, pp. 1555-1559
-
-
Mistry, P.K.1
Wraight, E.P.2
Cox, T.M.3
-
74
-
-
18244397953
-
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
-
Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, et al. 2002. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 33:525-31
-
(2002)
Stroke
, vol.33
, pp. 525-531
-
-
Moore, D.F.1
Altarescu, G.2
Ling, G.S.3
Jeffries, N.4
Frei, K.P.5
-
75
-
-
3042541869
-
Arterial Wall Properties and Womersley Flow in Fabry Disease
-
Moore DF, Altarescu G, Pursley R, Campia U, Panza JA, et al. 2002. Arterial Wall Properties and Womersley Flow in Fabry Disease. BMC Cardiovasc. Disord. 2:1-6
-
(2002)
BMC Cardiovasc. Disord.
, vol.2
, pp. 1-6
-
-
Moore, D.F.1
Altarescu, G.2
Pursley, R.3
Campia, U.4
Panza, J.A.5
-
76
-
-
0035949721
-
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: Reversal by enzyme replacement therapy
-
Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, et al. 2001. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104:1506-12
-
(2001)
Circulation
, vol.104
, pp. 1506-1512
-
-
Moore, D.F.1
Scott, L.T.2
Gladwin, M.T.3
Altarescu, G.4
Kaneski, C.5
-
77
-
-
0034284271
-
Pathologic gene expression in Gaucher disease: Up-regulation of cysteine proteinases including osteoclastic cathepsin K
-
Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, Cox TM. 2000. Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood 96:1969-78
-
(2000)
Blood
, vol.96
, pp. 1969-1978
-
-
Moran, M.T.1
Schofield, J.P.2
Hayman, A.R.3
Shi, G.P.4
Young, E.5
Cox, T.M.6
-
78
-
-
0025360465
-
The neurological complications of Anderson-Fabry disease (α-galactosidase a deficiency)-investigation of symptomatic and presymptomatic patients
-
Morgan SH, Rudge P, Smith SJ, Bronstein AM, Kendall BE, et al. 1990. The neurological complications of Anderson-Fabry disease (α-galactosidase A deficiency)-investigation of symptomatic and presymptomatic patients. QJM 75:491-507
-
(1990)
QJM
, vol.75
, pp. 491-507
-
-
Morgan, S.H.1
Rudge, P.2
Smith, S.J.3
Bronstein, A.M.4
Kendall, B.E.5
-
79
-
-
0026783269
-
Human lysosomal protective protein. Glycosylation, intracellular transport, and association with β-galactosidase in the endoplasmic reticulum
-
Morreau H, Galjart NJ, Willemsen R, Gillemans N, Zhou XY, d'Azzo A. 1992. Human lysosomal protective protein. Glycosylation, intracellular transport, and association with β-galactosidase in the endoplasmic reticulum. J. Biol. Chem. 267:17949-56
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 17949-17956
-
-
Morreau, H.1
Galjart, N.J.2
Willemsen, R.3
Gillemans, N.4
Zhou, X.Y.5
D'Azzo, A.6
-
80
-
-
0035074341
-
The molecular machinery for lysosome biogenesis
-
Mullins C, Bonifacino JS. 2001. The molecular machinery for lysosome biogenesis. Bioessays 23:333-43
-
(2001)
Bioessays
, vol.23
, pp. 333-343
-
-
Mullins, C.1
Bonifacino, J.S.2
-
81
-
-
0028870426
-
Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes
-
Murray GJ, Oliver KL, Jin F-S, Brady RO. 1995. Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes. J. Cell Biochem. 57:208-17
-
(1995)
J. Cell Biochem.
, vol.57
, pp. 208-217
-
-
Murray, G.J.1
Oliver, K.L.2
Jin, F.-S.3
Brady, R.O.4
-
82
-
-
0034704245
-
Identification of HE1 as the second gene of Niemann-Pick C disease
-
Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, et al. 2000. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290: 2298-301
-
(2000)
Science
, vol.290
, pp. 2298-2301
-
-
Naureckiene, S.1
Sleat, D.E.2
Lackland, H.3
Fensom, A.4
Vanier, M.T.5
-
83
-
-
0000869162
-
The Mucopolysaccharidoses
-
ed. CR Scriver, A Beaudet, D Valle, WS Sly, B Childs, KW Kinzler, B Vogelstein, New York: McGraw-Hill
-
Neufeld EF, Muenzer J. 2001. The Mucopolysaccharidoses. In The Metabolic & Molecular Bases of Inherited Diseases, ed. CR Scriver, A Beaudet, D Valle, WS Sly, B Childs, KW Kinzler, B Vogelstein, pp. 3421-52. New York: McGraw-Hill
-
(2001)
The Metabolic & Molecular Bases of Inherited Diseases
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
84
-
-
12644284502
-
α-Galactosidase a deficient mice: A model of Fabry disease
-
Ohshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, et al. 1997. α-Galactosidase A deficient mice: a model of Fabry disease. Proc. Natl. Acad. Sci. USA 94:2540-44
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 2540-2544
-
-
Ohshima, T.1
Murray, G.J.2
Swaim, W.D.3
Longenecker, G.4
Quirk, J.M.5
-
85
-
-
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. 1993. Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood 82:408-16
-
(1993)
Blood
, vol.82
, pp. 408-416
-
-
Pastores, G.M.1
Sibille, A.R.2
Grabowski, G.A.3
-
87
-
-
9344245169
-
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
-
Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, et al. 1996. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 87:4894-902
-
(1996)
Blood
, vol.87
, pp. 4894-4902
-
-
Peters, C.1
Balthazor, M.2
Shapiro, E.G.3
King, R.J.4
Kollman, C.5
-
88
-
-
0032055564
-
Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children
-
The Storage Disease Collaborative Study Group.
-
Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, et al. 1998. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood 91:2601-8
-
(1998)
Blood
, vol.91
, pp. 2601-2608
-
-
Peters, C.1
Shapiro, E.G.2
Anderson, J.3
Henslee-Downey, P.J.4
Klemperer, M.R.5
-
89
-
-
0030937840
-
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin
-
Platt FM, Neises GR, Reinkensmeier G, Townsend MJ, Perry VH, et al. 1997. Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science 276:428-31
-
(1997)
Science
, vol.276
, pp. 428-431
-
-
Platt, F.M.1
Neises, G.R.2
Reinkensmeier, G.3
Townsend, M.J.4
Perry, V.H.5
-
90
-
-
0030908645
-
Enzyme therapy in Gaucher disease type 1: Effect of neutralizing antibodies to acid β-glucosidase
-
Ponce E, Moskovitz J, Grabowski G. 1997. Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid β-glucosidase. Blood 90:43-48
-
(1997)
Blood
, vol.90
, pp. 43-48
-
-
Ponce, E.1
Moskovitz, J.2
Grabowski, G.3
-
93
-
-
0035369294
-
Sorting of mannose 6-phosphate receptors mediated by the GGAs
-
Puertollano R, Aguilar RC, Gorshkova I, Crouch RJ, Bonifacino JS. 2001. Sorting of mannose 6-phosphate receptors mediated by the GGAs. Science 292:1712-16
-
(2001)
Science
, vol.292
, pp. 1712-1716
-
-
Puertollano, R.1
Aguilar, R.C.2
Gorshkova, I.3
Crouch, R.J.4
Bonifacino, J.S.5
-
94
-
-
0034022769
-
Static and dynamic bone histomorphometry in children with osteogenesis imperfecta
-
Rauch F, Travers R, Parfitt AM, Glorieux FH. 2000. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone 26:581-89
-
(2000)
Bone
, vol.26
, pp. 581-589
-
-
Rauch, F.1
Travers, R.2
Parfitt, A.M.3
Glorieux, F.H.4
-
95
-
-
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. 1999. Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood 93:2081-88
-
(1999)
Blood
, vol.93
, pp. 2081-2088
-
-
Rosenberg, M.1
Kingma, W.2
Fitzpatrick, M.A.3
Richards, S.M.4
-
96
-
-
0030772366
-
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease
-
Schiffman R, Heyes MP, Aerts JM, Dambrosia JM, Patterson MC, et al. 1997. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. Ann. Neurol. 42:613-21
-
(1997)
Ann. Neurol.
, vol.42
, pp. 613-621
-
-
Schiffman, R.1
Heyes, M.P.2
Aerts, J.M.3
Dambrosia, J.M.4
Patterson, M.C.5
-
97
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, et al. 2001. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. Jama 285:2743-49
-
(2001)
Jama
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
Sabnis, S.4
Moore, D.F.5
-
98
-
-
0000831299
-
Niemann-Pick Disease Types A and B: Acid sphingomyelinase deficiencies
-
ed. CR Scriver, A Beaudet, W Sly, D Valle, New York: McGraw-Hill
-
Schuchman EH, Desnick RJ. 2001. Niemann-Pick Disease Types A and B: acid sphingomyelinase deficiencies. In The Metabolic & Molecular Bases of Inherited Disease, ed. CR Scriver, A Beaudet, W Sly, D Valle, pp. 3589-610. New York: McGraw-Hill
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, pp. 3589-3610
-
-
Schuchman, E.H.1
Desnick, R.J.2
-
99
-
-
0038755205
-
Fabry disease: A functional and anatomical study of cardiac manifestations in 20 hemizygous male patients
-
Senechal M, Germain D. 2003. Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients. Clin. Genet. 63:46-52
-
(2003)
Clin. Genet.
, vol.63
, pp. 46-52
-
-
Senechal, M.1
Germain, D.2
-
100
-
-
0028568013
-
Enzyme replacement in a canine model of Hurler syndrome
-
Shull RM, Kakkis ED, McEntee MF, Kania SA, Jonas AJ, Neufeld EF. 1994. Enzyme replacement in a canine model of Hurler syndrome. Proc. Natl. Acad. Sci. USA 91:12937-41
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 12937-12941
-
-
Shull, R.M.1
Kakkis, E.D.2
McEntee, M.F.3
Kania, S.A.4
Jonas, A.J.5
Neufeld, E.F.6
-
101
-
-
0027442703
-
Phenotype/ genotype correlations in Gaucher disease type I: Clinical and therapeutic implications
-
Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA. 1993. Phenotype/ genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am. J. Hum. Genet. 52:1094-101
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 1094-1101
-
-
Sibille, A.1
Eng, C.M.2
Kim, S.J.3
Pastores, G.4
Grabowski, G.A.5
-
102
-
-
26744460464
-
Early enzyme replacement therapy may prevent or reverse the nephropathy in Fabry disease
-
Nov. 8-9
-
Spada M, Perfetto F, Pietrafesa A, Pagliardini S. 2002. Early enzyme replacement therapy may prevent or reverse the nephropathy in Fabry disease. Eur. Symp. Fabry Dis. Nov. 8-9:P26
-
(2002)
Eur. Symp. Fabry Dis.
-
-
Spada, M.1
Perfetto, F.2
Pietrafesa, A.3
Pagliardini, S.4
-
103
-
-
0344094038
-
Evidence for receptor-mediated binding of glycoproteins, glycoconjugates, and lysosomal glycosidases by alveolar macrophages
-
Stahl PD, Rodman JS, Miller MJ, Schlesinger PH. 1978. Evidence for receptor-mediated binding of glycoproteins, glycoconjugates, and lysosomal glycosidases by alveolar macrophages. Proc. Natl. Acad. Sci. USA 75:1399-403
-
(1978)
Proc. Natl. Acad. Sci. USA
, vol.75
, pp. 1399-1403
-
-
Stahl, P.D.1
Rodman, J.S.2
Miller, M.J.3
Schlesinger, P.H.4
-
104
-
-
0030298068
-
The biogenesis of lysosomes: Is it a kiss and run, continuous fusion and fission process?
-
Storrie B, Desjardins M. 1996. The biogenesis of lysosomes: Is it a kiss and run, continuous fusion and fission process? Bioessays 18:895-903
-
(1996)
Bioessays
, vol.18
, pp. 895-903
-
-
Storrie, B.1
Desjardins, M.2
-
105
-
-
0021164336
-
Structure of the N-asparagine-linked oligosaccharide units of human placental β-glucocerebrosidase
-
Takasaki S, Murray GJ, Furbish FS, Brady RO, Barranger JA, Kobata A. 1984. Structure of the N-asparagine-linked oligosaccharide units of human placental β-glucocerebrosidase. J. Biol. Chem. 259:10112-17
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 10112-10117
-
-
Takasaki, S.1
Murray, G.J.2
Furbish, F.S.3
Brady, R.O.4
Barranger, J.A.5
Kobata, A.6
-
106
-
-
0036145366
-
Patients with Fabry disease on dialysis in the United States
-
Thadhani R, Wolf M, West ML, Tonelli M, Ruthazer R, et al. 2002. Patients with Fabry disease on dialysis in the United States. Kidney Int. 61:249-55
-
(2002)
Kidney Int.
, vol.61
, pp. 249-255
-
-
Thadhani, R.1
Wolf, M.2
West, M.L.3
Tonelli, M.4
Ruthazer, R.5
-
107
-
-
0036436320
-
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, et al. 2002. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 62:1933-46
-
(2002)
Kidney Int.
, vol.62
, pp. 1933-1946
-
-
Thurberg, B.L.1
Rennke, H.2
Colvin, R.B.3
Dikman, S.4
Gordon, R.E.5
-
108
-
-
0027536273
-
An assay to detect glycoproteins that contain mannose 6-phosphate
-
Valenzano KJ, Kallay LM, Lobel P. 1993. An assay to detect glycoproteins that contain mannose 6-phosphate. Anal. Biochem. 209:156-62
-
(1993)
Anal. Biochem.
, vol.209
, pp. 156-162
-
-
Valenzano, K.J.1
Kallay, L.M.2
Lobel, P.3
-
109
-
-
0034729963
-
Recombinant human α-glucosidase from rabbit milk in Pompe disease
-
van den Hout JM, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, van der Ploeg AT. 2000. Recombinant human α-glucosidase from rabbit milk in Pompe disease. Lancet 356:397-98
-
(2000)
Lancet
, vol.356
, pp. 397-398
-
-
Van Den Hout, J.M.1
Reuser, A.J.2
Vulto, A.G.3
Loonen, M.C.4
Cromme-Dijkhuis, A.5
Van Der Ploeg, A.T.6
-
110
-
-
0019863331
-
Lysosomal enzyme targeting: N-acetylglucosaminyl-phosphotransferase selectively phosphorylated native lysosomal enzymes
-
Varki A, Kornfeld A. 1981. Lysosomal enzyme targeting: N-acetylglucosaminyl-phosphotransferase selectively phosphorylated native lysosomal enzymes. J. Biol. Chem. 256:11977-80
-
(1981)
J. Biol. Chem.
, vol.256
, pp. 11977-11980
-
-
Varki, A.1
Kornfeld, A.2
-
111
-
-
0032192373
-
Molecular genetics of mucopolysaccharidosis type I: Mutation analysis among the patients of the former Soviet Union
-
Voskoboeva EY, Krasnopolskaya XD, Mirenburg TV, Weber B, Hopwood JJ. 1998. Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union. Mol. Genet. Metab. 65: 174-80
-
(1998)
Mol. Genet. Metab.
, vol.65
, pp. 174-180
-
-
Voskoboeva, E.Y.1
Krasnopolskaya, X.D.2
Mirenburg, T.V.3
Weber, B.4
Hopwood, J.J.5
-
112
-
-
0037159549
-
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of threatment: A report from the Gaucher registry
-
Weinreb N, Charrow J, Andersson HC, Kaplan P, Kolodny E, et al. 2002. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of threatment: a report from the Gaucher registry. Am. J. Med. 113:112-19
-
(2002)
Am. J. Med.
, vol.113
, pp. 112-119
-
-
Weinreb, N.1
Charrow, J.2
Andersson, H.C.3
Kaplan, P.4
Kolodny, E.5
-
113
-
-
0032514902
-
Lysosomal degradation on vesicular membrane surfaces. Enhances glucosylceramide degradation by lysosomal anionic lipids and activators
-
Wilkening G, Linke T, Sandhoff K. 1998. Lysosomal degradation on vesicular membrane surfaces. Enhances glucosylceramide degradation by lysosomal anionic lipids and activators. J. Biol. Chem. 273:30271-78
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 30271-30278
-
-
Wilkening, G.1
Linke, T.2
Sandhoff, K.3
-
114
-
-
0035000479
-
Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties
-
Wraith JE. 2001. Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties. J. Inherit. Metab. Dis. 24:245-50
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 245-250
-
-
Wraith, J.E.1
-
115
-
-
0030030138
-
Turnover and distribution of intravenously administered mannose-terminated human acid β-glucosidase in murine and human tissues
-
Xu YH, Ponce E, Sun Y, Leonova T, Bove K, et al. 1996. Turnover and distribution of intravenously administered mannose-terminated human acid β-glucosidase in murine and human tissues. Pediatr. Res. 39:313-22
-
(1996)
Pediatr. Res.
, vol.39
, pp. 313-322
-
-
Xu, Y.H.1
Ponce, E.2
Sun, Y.3
Leonova, T.4
Bove, K.5
-
116
-
-
0028846578
-
Effect of cellular type on expression of acid β-glucosidase: Implications for gene therapy in Gaucher disease
-
Xu YH, Wenstrup R, Grabowski GA. 1995. Effect of cellular type on expression of acid β-glucosidase: implications for gene therapy in Gaucher disease. Gene Ther. 2:647-54
-
(1995)
Gene Ther.
, vol.2
, pp. 647-654
-
-
Xu, Y.H.1
Wenstrup, R.2
Grabowski, G.A.3
-
117
-
-
0037162719
-
Crucial step in cholesterol homeostasis: Sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER
-
Yang T, Espenshade PJ, Wright ME, Yabe D, Gong Y, et al. 2002. Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER. Cell 110:489-500
-
(2002)
Cell
, vol.110
, pp. 489-500
-
-
Yang, T.1
Espenshade, P.J.2
Wright, M.E.3
Yabe, D.4
Gong, Y.5
-
118
-
-
0037216705
-
Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes
-
Zhao H, Bailey LA, Elsas LJ 2nd, Grinzaid KA, Grabowski GA. 2003. Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. Am. J. Med. Genet. 116:52-56
-
(2003)
Am. J. Med. Genet.
, vol.116
, pp. 52-56
-
-
Zhao, H.1
Bailey, L.A.2
Elsas II, L.J.3
Grinzaid, K.A.4
Grabowski, G.A.5
-
119
-
-
0036242349
-
Gaucher disease: Perspectives on a prototype lysosomal disease
-
Zhao H, Grabowski GA. 2002. Gaucher disease: perspectives on a prototype lysosomal disease. Cell Mol. Life Sci. 59:694-707
-
(2002)
Cell Mol. Life Sci.
, vol.59
, pp. 694-707
-
-
Zhao, H.1
Grabowski, G.A.2
-
120
-
-
0026086455
-
A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable
-
Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H, d'Azzo A. 1991. A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable. EMBO J. 10:4041-48
-
(1991)
EMBO J.
, vol.10
, pp. 4041-4048
-
-
Zhou, X.Y.1
Galjart, N.J.2
Willemsen, R.3
Gillemans, N.4
Galjaard, H.5
D'Azzo, A.6
|