-
2
-
-
2342571710
-
Gaucher disease: lessons from a decade of therapy
-
Grabowski G.A. Gaucher disease: lessons from a decade of therapy. J. Pediatr. 144 (2004) S15-S19
-
(2004)
J. Pediatr.
, vol.144
-
-
Grabowski, G.A.1
-
3
-
-
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 E.G., Anderson J., Henslee-Downey P.J., Klemperer M.R., Cowan M.J., Saunders E.F., deAlarcon P.A., Twist C., Nachman J.B., Hale G.A., Harris R.E., Rozans M.K., Kurtzberg J., Grayson G.H., Williams T.E., Lenarsky C., Wagner J.E., and Krivit W. 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 (1998) 2601-2608
-
(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
Cowan, M.J.6
Saunders, E.F.7
deAlarcon, P.A.8
Twist, C.9
Nachman, J.B.10
Hale, G.A.11
Harris, R.E.12
Rozans, M.K.13
Kurtzberg, J.14
Grayson, G.H.15
Williams, T.E.16
Lenarsky, C.17
Wagner, J.E.18
Krivit, W.19
-
4
-
-
2342535103
-
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome
-
Staba S.L., Escolar M.L., Poe M., Kim Y., Martin P.L., Szabolcs P., Allison-Thacker J., Wood S., Wenger D.A., Rubinstein P., Hopwood J.J., Krivit W., and Kurtzberg J. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N. Engl. J. Med. 350 (2004) 1960-1969
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 1960-1969
-
-
Staba, S.L.1
Escolar, M.L.2
Poe, M.3
Kim, Y.4
Martin, P.L.5
Szabolcs, P.6
Allison-Thacker, J.7
Wood, S.8
Wenger, D.A.9
Rubinstein, P.10
Hopwood, J.J.11
Krivit, W.12
Kurtzberg, J.13
-
5
-
-
0018293121
-
Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I
-
Haskins M.E., Jezyk P.F., Desnick R.J., McDonough S.K., and Patterson D.F. Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. Pediatr. Res. 13 (1979) 1294-1297
-
(1979)
Pediatr. Res.
, vol.13
, pp. 1294-1297
-
-
Haskins, M.E.1
Jezyk, P.F.2
Desnick, R.J.3
McDonough, S.K.4
Patterson, D.F.5
-
6
-
-
0032790491
-
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats
-
He X., Li C.M., Simonaro C.M., Wan Q., Haskins M.E., Desnick R.J., and Schuchman E.H. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol. Genet. Metab. 67 (1999) 106-112
-
(1999)
Mol. Genet. Metab.
, vol.67
, pp. 106-112
-
-
He, X.1
Li, C.M.2
Simonaro, C.M.3
Wan, Q.4
Haskins, M.E.5
Desnick, R.J.6
Schuchman, E.H.7
-
7
-
-
0033057414
-
Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI
-
Alroy J., Haskins M., and Birk D.E. Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. Exp. Eye Res. 68 (1999) 523-530
-
(1999)
Exp. Eye Res.
, vol.68
, pp. 523-530
-
-
Alroy, J.1
Haskins, M.2
Birk, D.E.3
-
8
-
-
0020563454
-
The pathology of the feline model of mucopolysaccharidosis I
-
Haskins M.E., Aguirre G.D., Jezyk P.F., Desnick R.J., and Patterson D.F. The pathology of the feline model of mucopolysaccharidosis I. Am. J. Pathol. 112 (1983) 27-36
-
(1983)
Am. J. Pathol.
, vol.112
, pp. 27-36
-
-
Haskins, M.E.1
Aguirre, G.D.2
Jezyk, P.F.3
Desnick, R.J.4
Patterson, D.F.5
-
9
-
-
0026830775
-
Hepatic storage of glycosaminoglycans in feline and canine models of mucopolysaccharidoses I, VI, and VII
-
Haskins M.E., Otis E.J., Hayden J.E., Jezyk P.F., and Stramm L. Hepatic storage of glycosaminoglycans in feline and canine models of mucopolysaccharidoses I, VI, and VII. Vet. Pathol. 29 (1992) 112-119
-
(1992)
Vet. Pathol.
, vol.29
, pp. 112-119
-
-
Haskins, M.E.1
Otis, E.J.2
Hayden, J.E.3
Jezyk, P.F.4
Stramm, L.5
-
10
-
-
9044244531
-
Corneal endothelium in mucopolysaccharide storage disorders. Morphologic studies in animal models
-
Mollard R.J., Telegan P., Haskins M., and Aguirre G. Corneal endothelium in mucopolysaccharide storage disorders. Morphologic studies in animal models. Cornea 15 (1996) 25-34
-
(1996)
Cornea
, vol.15
, pp. 25-34
-
-
Mollard, R.J.1
Telegan, P.2
Haskins, M.3
Aguirre, G.4
-
11
-
-
0028351637
-
Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII
-
Sheridan O., Wortman J., Harvey C., Hayden J., and Haskins M. Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII. J. Craniofac. Genet. Dev. Biol. 14 (1994) 7-15
-
(1994)
J. Craniofac. Genet. Dev. Biol.
, vol.14
, pp. 7-15
-
-
Sheridan, O.1
Wortman, J.2
Harvey, C.3
Hayden, J.4
Haskins, M.5
-
12
-
-
0024428514
-
Retinal pigment epithelial glycosaminoglycan metabolism: intracellular versus extracellular pathways. In vitro studies in normal and diseased cells
-
Stramm L.E., Haskins M.E., and Aguirre G.D. Retinal pigment epithelial glycosaminoglycan metabolism: intracellular versus extracellular pathways. In vitro studies in normal and diseased cells. Invest. Ophthalmol. Vis. Sci. 30 (1989) 2118-2131
-
(1989)
Invest. Ophthalmol. Vis. Sci.
, vol.30
, pp. 2118-2131
-
-
Stramm, L.E.1
Haskins, M.E.2
Aguirre, G.D.3
-
13
-
-
0025769357
-
Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement
-
Walkley S.U., Baker H.J., Rattazzi M.C., Haskins M.E., and Wu J.Y. Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement. J. Neurol. Sci. 104 (1991) 1-8
-
(1991)
J. Neurol. Sci.
, vol.104
, pp. 1-8
-
-
Walkley, S.U.1
Baker, H.J.2
Rattazzi, M.C.3
Haskins, M.E.4
Wu, J.Y.5
-
14
-
-
0023895089
-
Alterations in neuron morphology in mucopolysaccharidosis type I. A Golgi study
-
Walkley S.U., Haskins M.E., and Shull R.M. Alterations in neuron morphology in mucopolysaccharidosis type I. A Golgi study. Acta Neuropathol (Berl) 75 (1988) 611-620
-
(1988)
Acta Neuropathol (Berl)
, vol.75
, pp. 611-620
-
-
Walkley, S.U.1
Haskins, M.E.2
Shull, R.M.3
-
16
-
-
0035718871
-
Enzyme replacement therapy in feline mucopolysaccharidosis I
-
Kakkis E.D., Schuchman E., He X., Wan Q., Kania S., Wiemelt S., Hasson C.W., O'Malley T., Weil M.A., Aguirre G.A., Brown D.E., and Haskins M.E. Enzyme replacement therapy in feline mucopolysaccharidosis I. Mol. Genet. Metab. 72 (2001) 199-208
-
(2001)
Mol. Genet. Metab.
, vol.72
, pp. 199-208
-
-
Kakkis, E.D.1
Schuchman, E.2
He, X.3
Wan, Q.4
Kania, S.5
Wiemelt, S.6
Hasson, C.W.7
O'Malley, T.8
Weil, M.A.9
Aguirre, G.A.10
Brown, D.E.11
Haskins, M.E.12
-
17
-
-
0020056258
-
Genetic mapping in mammals: chromosome map of domestic cat
-
O'Brien S.J., and Nash W.G. Genetic mapping in mammals: chromosome map of domestic cat. Science 216 (1982) 257-265
-
(1982)
Science
, vol.216
, pp. 257-265
-
-
O'Brien, S.J.1
Nash, W.G.2
-
19
-
-
0033604318
-
Ferret pyramidal cell dendritogenesis: changes in morphology and ganglioside expression during cortical development
-
Zervas M., and Walkley S.U. Ferret pyramidal cell dendritogenesis: changes in morphology and ganglioside expression during cortical development. J. Comp. Neurol. 413 (1999) 429-448
-
(1999)
J. Comp. Neurol.
, vol.413
, pp. 429-448
-
-
Zervas, M.1
Walkley, S.U.2
-
20
-
-
0033934527
-
Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII
-
Sammarco C., Weil M., Just C., Weimelt S., Hasson C., O'Malley T., Evans S.M., Wang P., Casal M.L., Wolfe J., and Haskins M. Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII. Bone Marrow Transplant 25 (2000) 1289-1297
-
(2000)
Bone Marrow Transplant
, vol.25
, pp. 1289-1297
-
-
Sammarco, C.1
Weil, M.2
Just, C.3
Weimelt, S.4
Hasson, C.5
O'Malley, T.6
Evans, S.M.7
Wang, P.8
Casal, M.L.9
Wolfe, J.10
Haskins, M.11
-
21
-
-
0027300720
-
Simultaneous preparation and quantitation of proteoglycans by precipitation with alcian blue
-
Bjornsson S. Simultaneous preparation and quantitation of proteoglycans by precipitation with alcian blue. Anal. Biochem. 210 (1993) 282-291
-
(1993)
Anal. Biochem.
, vol.210
, pp. 282-291
-
-
Bjornsson, S.1
-
22
-
-
10744232302
-
A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs
-
Ellinwood N.M., Wang P., Skeen T., Sharp N.J., Cesta M., Decker S., Edwards N.J., Bublot I., Thompson J.N., Bush W., Hardam E., Haskins M.E., and Giger U. A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J. Inherit Metab. Dis. 26 (2003) 489-504
-
(2003)
J. Inherit Metab. Dis.
, vol.26
, pp. 489-504
-
-
Ellinwood, N.M.1
Wang, P.2
Skeen, T.3
Sharp, N.J.4
Cesta, M.5
Decker, S.6
Edwards, N.J.7
Bublot, I.8
Thompson, J.N.9
Bush, W.10
Hardam, E.11
Haskins, M.E.12
Giger, U.13
-
23
-
-
0029982572
-
Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
-
Fujita N., Suzuki K., Vanier M.T., Popko B., Maeda N., Klein A., Henseler M., Sandhoff K., and Nakayasu H. Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum. Mol. Genet. 5 (1996) 711-725
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 711-725
-
-
Fujita, N.1
Suzuki, K.2
Vanier, M.T.3
Popko, B.4
Maeda, N.5
Klein, A.6
Henseler, M.7
Sandhoff, K.8
Nakayasu, H.9
-
24
-
-
0023320241
-
Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reversed-phase columns
-
Kyrklund T. Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reversed-phase columns. Lipids 22 (1987) 274-277
-
(1987)
Lipids
, vol.22
, pp. 274-277
-
-
Kyrklund, T.1
-
25
-
-
0031973893
-
Cellular pathology of lysosomal storage disorders
-
Walkley S.U. Cellular pathology of lysosomal storage disorders. Brain Pathol 8 (1998) 175-193
-
(1998)
Brain Pathol
, vol.8
, pp. 175-193
-
-
Walkley, S.U.1
-
26
-
-
0029084338
-
Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity
-
Walkley S.U. Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity. Neuroscience 68 (1995) 1027-1035
-
(1995)
Neuroscience
, vol.68
, pp. 1027-1035
-
-
Walkley, S.U.1
-
27
-
-
0032554326
-
Transfer of diabetes type 1 by bone-marrow transplantation
-
Lampeter E.F., McCann S.R., and Kolb H. Transfer of diabetes type 1 by bone-marrow transplantation. Lancet 351 (1998) 568-569
-
(1998)
Lancet
, vol.351
, pp. 568-569
-
-
Lampeter, E.F.1
McCann, S.R.2
Kolb, H.3
-
28
-
-
0025867036
-
Expression of a foreign gene in cats reconstituted with retroviral vector infected autologous bone marrow
-
Lothrop Jr. C.D., al-Lebban Z.S., Niemeyer G.P., Jones J.B., Peterson M.G., Smith J.R., Baker H.J., Morgan R.A., Eglitis M.A., and Anderson W.F. Expression of a foreign gene in cats reconstituted with retroviral vector infected autologous bone marrow. Blood 78 (1991) 237-245
-
(1991)
Blood
, vol.78
, pp. 237-245
-
-
Lothrop Jr., C.D.1
al-Lebban, Z.S.2
Niemeyer, G.P.3
Jones, J.B.4
Peterson, M.G.5
Smith, J.R.6
Baker, H.J.7
Morgan, R.A.8
Eglitis, M.A.9
Anderson, W.F.10
-
29
-
-
0024357652
-
Corneal opacity in canine MPS I. Changes after bone marrow transplantation
-
Constantopoulos G., Scott J.A., and Shull R.M. Corneal opacity in canine MPS I. Changes after bone marrow transplantation. Invest. Ophthalmol. Vis. Sci. 30 (1989) 1802-1807
-
(1989)
Invest. Ophthalmol. Vis. Sci.
, vol.30
, pp. 1802-1807
-
-
Constantopoulos, G.1
Scott, J.A.2
Shull, R.M.3
-
30
-
-
0023135453
-
Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous system
-
Shull R.M., Hastings N.E., Selcer R.R., Jones J.B., Smith J.R., Cullen W.C., and Constantopoulos G. Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous system. J. Clin. Invest. 79 (1987) 435-443
-
(1987)
J. Clin. Invest.
, vol.79
, pp. 435-443
-
-
Shull, R.M.1
Hastings, N.E.2
Selcer, R.R.3
Jones, J.B.4
Smith, J.R.5
Cullen, W.C.6
Constantopoulos, G.7
-
31
-
-
0023778637
-
Long-term neurological effects of bone marrow transplantation in a canine lysosomal storage disease
-
Shull R.M., Breider M.A., and Constantopoulos G.C. Long-term neurological effects of bone marrow transplantation in a canine lysosomal storage disease. Pediatr. Res. 24 (1988) 347-352
-
(1988)
Pediatr. Res.
, vol.24
, pp. 347-352
-
-
Shull, R.M.1
Breider, M.A.2
Constantopoulos, G.C.3
-
32
-
-
0028568013
-
Enzyme replacement in a canine model of Hurler syndrome
-
Shull R.M., Kakkis E.D., McEntee M.F., Kania S.A., Jonas A.J., and Neufeld E.F. Enzyme replacement in a canine model of Hurler syndrome. Proc. Natl. Acad. Sci. U S A 91 (1994) 12937-12941
-
(1994)
Proc. Natl. Acad. Sci. U S A
, 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
-
33
-
-
0030221033
-
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I
-
Kakkis E.D., McEntee M.F., Schmidtchen A., Neufeld E.F., Ward D.A., Gompf R.E., Kania S., Bedolla C., Chien S.L., and Shull R.M. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem. Mol. Med. 58 (1996) 156-167
-
(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
Gompf, R.E.6
Kania, S.7
Bedolla, C.8
Chien, S.L.9
Shull, R.M.10
-
34
-
-
2342666229
-
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
-
Wraith J.E., Clarke L.A., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., Rapoport D.M., Berger K.I., Swiedler S.J., Kakkis E.D., Braakman T., Chadbourne E., Walton-Bowen K., and Cox G.F. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J. Pediatr. 144 (2004) 581-588
-
(2004)
J. Pediatr.
, vol.144
, pp. 581-588
-
-
Wraith, J.E.1
Clarke, L.A.2
Beck, M.3
Kolodny, E.H.4
Pastores, G.M.5
Muenzer, J.6
Rapoport, D.M.7
Berger, K.I.8
Swiedler, S.J.9
Kakkis, E.D.10
Braakman, T.11
Chadbourne, E.12
Walton-Bowen, K.13
Cox, G.F.14
-
35
-
-
0242468169
-
Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report
-
Grewal S., Shapiro E., Braunlin E., Charnas L., Krivit W., Orchard P., and Peters C. Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report. Bone Marrow Transplant 32 (2003) 957-960
-
(2003)
Bone Marrow Transplant
, vol.32
, pp. 957-960
-
-
Grewal, S.1
Shapiro, E.2
Braunlin, E.3
Charnas, L.4
Krivit, W.5
Orchard, P.6
Peters, C.7
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