-
1
-
-
0343101771
-
Storage disease
-
Siekevitz P (ed). Plenum Press: New York
-
Holtzman E. Storage disease. In: Siekevitz P (ed). Lysosomes. Plenum Press: New York, 1989, pp 344-356.
-
(1989)
Lysosomes
, pp. 344-356
-
-
Holtzman, E.1
-
2
-
-
0000820862
-
The mucopolysaccharidoses
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw Hill: New York
-
Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. McGraw Hill: New York, 1995, pp 2465-2508.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2465-2508
-
-
Neufeld, E.F.1
Muenzer, J.2
-
3
-
-
0003034737
-
Lysosomal storage diseases
-
Kaneko JJ, Harvey JW, Bruss ML (eds). Academic Press, New York
-
Haskins ME, Giger U. Lysosomal storage diseases. In: Kaneko JJ, Harvey JW, Bruss ML (eds). Lysosomal Storage Diseases in Clinical Biochemistry of Domestic Animals. Academic Press, New York, 1997, pp 741-761.
-
(1997)
Lysosomal Storage Diseases in Clinical Biochemistry of Domestic Animals
, pp. 741-761
-
-
Haskins, M.E.1
Giger, U.2
-
4
-
-
0001070153
-
Mucopolysaccharidosis IIIB (Sanfilippo B syndrome) in emus
-
Giger U, Shivaprasad HL, Wang P et al. Mucopolysaccharidosis IIIB (Sanfilippo B syndrome) in emus. Vet Pathol 1997; 34: 473.
-
(1997)
Vet Pathol
, vol.34
, pp. 473
-
-
Giger, U.1
Shivaprasad, H.L.2
Wang, P.3
-
5
-
-
0021213609
-
Beta-glucuronidase deficiency in a dog: A model of human mucopolysaccharidosis VII
-
Haskins ME, Desnick RJ, DiFerrante N et al. Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. Pediatr Res 1984; 18: 980-984.
-
(1984)
Pediatr Res
, vol.18
, pp. 980-984
-
-
Haskins, M.E.1
Desnick, R.J.2
DiFerrante, N.3
-
6
-
-
0024790283
-
Characterization of the defective β-glucuronidase activity in canine mucopolysaccharidosis type VII
-
Schuchman EH, Tordyan TK, Haskins ME, Desnick RJ. Characterization of the defective β-glucuronidase activity in canine mucopolysaccharidosis type VII. Enzyme 1989; 42: 174-180.
-
(1989)
Enzyme
, vol.42
, pp. 174-180
-
-
Schuchman, E.H.1
Tordyan, T.K.2
Haskins, M.E.3
Desnick, R.J.4
-
7
-
-
0028351637
-
Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII
-
Sheridan O, Wortman J, Harvey C et al. Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII. J Craniofac Genet Dev Biol 1994; 14: 7-15.
-
(1994)
J Craniofac Genet Dev Biol
, vol.14
, pp. 7-15
-
-
Sheridan, O.1
Wortman, J.2
Harvey, C.3
-
8
-
-
0032033199
-
Cloning of canine β-glucuronidase: Identification of a missense mutation in canine mucopolysaccharidosis type VII, and correction of mutant cells by retroviral vector-mediated gene transfer
-
Ray J, Bouvet A, DeSanto C et al. Cloning of canine β-glucuronidase: identification of a missense mutation in canine mucopolysaccharidosis type VII, and correction of mutant cells by retroviral vector-mediated gene transfer. Genomics 1998; 48: 248-253.
-
(1998)
Genomics
, vol.48
, pp. 248-253
-
-
Ray, J.1
Bouvet, A.2
DeSanto, C.3
-
9
-
-
0011596655
-
Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts
-
Kaplan A, Achord DT, Sly WS. Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts. Proc Natl Acad Sci USA 1977; 74: 2026-2030.
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 2026-2030
-
-
Kaplan, A.1
Achord, D.T.2
Sly, W.S.3
-
10
-
-
0018293353
-
Identification of mannose 6-phosphate in glycoproteins that inhibit the assimilation of beta-galactosidase by fibroblasts
-
Distler J, Hieber V, Sahagian G, Schmickel R, Jourdian GW. Identification of mannose 6-phosphate in glycoproteins that inhibit the assimilation of beta-galactosidase by fibroblasts. Proc Natl Acad Sci USA 1979; 76: 4235-4239.
-
(1979)
Proc Natl Acad Sci USA
, vol.76
, pp. 4235-4239
-
-
Distler, J.1
Hieber, V.2
Sahagian, G.3
Schmickel, R.4
Jourdian, G.W.5
-
11
-
-
0018305643
-
Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblasts
-
Natowicz MR, Chi MM, Lowry OH, Sly WS. Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblasts. Proc Natl Acad Sci USA 1979; 76: 4322-4326.
-
(1979)
Proc Natl Acad Sci USA
, vol.76
, pp. 4322-4326
-
-
Natowicz, M.R.1
Chi, M.M.2
Lowry, O.H.3
Sly, W.S.4
-
12
-
-
0014939802
-
Inborn errors of mucopolysaccharide metabolism
-
Neufeld EF, Fratantoni JC. Inborn errors of mucopolysaccharide metabolism. Science 1970; 169: 141-146.
-
(1970)
Science
, vol.169
, pp. 141-146
-
-
Neufeld, E.F.1
Fratantoni, J.C.2
-
13
-
-
0027051181
-
Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer
-
Wolfe JH, Sands MS, Barker JE et al. Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer. Nature 1992; 360: 749-753.
-
(1992)
Nature
, vol.360
, pp. 749-753
-
-
Wolfe, J.H.1
Sands, M.S.2
Barker, J.E.3
-
15
-
-
0014444144
-
A low-viscosity epoxy resin embedding medium for electron microscopy
-
Spurr AR. A low-viscosity epoxy resin embedding medium for electron microscopy. J Ultrastruct Res 1969; 26: 31-43.
-
(1969)
J Ultrastruct Res
, vol.26
, pp. 31-43
-
-
Spurr, A.R.1
-
16
-
-
52649114611
-
The use of lead citrate at a high pH as an electronopague stain in electron microscopy
-
Reynolds E. The use of lead citrate at a high pH as an electronopague stain in electron microscopy. J Cell Biol 1963; 17: 209-212.
-
(1963)
J Cell Biol
, vol.17
, pp. 209-212
-
-
Reynolds, E.1
-
18
-
-
0001351056
-
Murine mucopolysaccaridosis type VII: A model system for somatic gene therapy of the central nervous system
-
Lowenstein PR, Enquist LW (eds). John Wiley: Chichester
-
Wolfe JH, Sands MS. Murine mucopolysaccaridosis type VII: a model system for somatic gene therapy of the central nervous system. In: Lowenstein PR, Enquist LW (eds). Protocols for gene transfer in neuroscience: towards gene therapy of neurological disorders. John Wiley: Chichester, 1996, pp 265-274.
-
(1996)
Protocols for Gene Transfer in Neuroscience: Towards Gene Therapy of Neurological Disorders
, pp. 265-274
-
-
Wolfe, J.H.1
Sands, M.S.2
-
19
-
-
0014678521
-
Tay-Sachs disease: Generalized absence of a beta-D-N-acetylhexosaminidase component
-
Okada S, O'Brien JS. Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science 1969; 165: 698-700.
-
(1969)
Science
, vol.165
, pp. 698-700
-
-
Okada, S.1
O'Brien, J.S.2
-
20
-
-
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 1993; 210: 282-291.
-
(1993)
Anal Biochem
, vol.210
, pp. 282-291
-
-
Bjornsson, S.1
-
22
-
-
0019134625
-
The pathology of feline arylsulfatase B-deficient mucopolysaccharidosis
-
Haskins ME, Aguirre GD, Jezyk PF, Patterson DF. The pathology of feline arylsulfatase B-deficient mucopolysaccharidosis. Am J Pathol 1980; 101: 657-674.
-
(1980)
Am J Pathol
, vol.101
, pp. 657-674
-
-
Haskins, M.E.1
Aguirre, G.D.2
Jezyk, P.F.3
Patterson, D.F.4
-
23
-
-
0020563454
-
The pathology of feline alpha-L-iduronidase deficient mucopolysaccharidosis
-
Haskins ME, Aguirre GD, Jezyk PF et al. The pathology of feline alpha-L-iduronidase deficient mucopolysaccharidosis. Am J Pathol 1983; 112: 27-36.
-
(1983)
Am J Pathol
, vol.112
, pp. 27-36
-
-
Haskins, M.E.1
Aguirre, G.D.2
Jezyk, P.F.3
-
24
-
-
0021361624
-
Morphologic and biochemical studies of canine mucopolysaccharidosis I
-
Shull RM, Helman RG, Spellacy E et al. Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol 1984; 114: 487-495.
-
(1984)
Am J Pathol
, vol.114
, pp. 487-495
-
-
Shull, R.M.1
Helman, R.G.2
Spellacy, E.3
-
25
-
-
0027183224
-
Pathological characteristics of mucopolysaccharidosis VI in the rat
-
Yoshida M, Ikadai H, Maekawa A et al. Pathological characteristics of mucopolysaccharidosis VI in the rat. J Comp Pathol 1993; 109: 141-153.
-
(1993)
J Comp Pathol
, vol.109
, pp. 141-153
-
-
Yoshida, M.1
Ikadai, H.2
Maekawa, A.3
-
26
-
-
0009997926
-
Cardiovascular manifestations of the Hurler sundrome: Cardiovascular and angiocardiographic observations in 15 patients
-
Krovetz LJ, Lorincz AE, Schiebler GL. Cardiovascular manifestations of the Hurler sundrome: cardiovascular and angiocardiographic observations in 15 patients. Circulation 1965; 31: 132-141.
-
(1965)
Circulation
, vol.31
, pp. 132-141
-
-
Krovetz, L.J.1
Lorincz, A.E.2
Schiebler, G.L.3
-
27
-
-
0000124994
-
Cardiovascular manifestations of the genetic mucopolysaccharidoses
-
Krovetz, LJ, Schiebler GL. Cardiovascular manifestations of the genetic mucopolysaccharidoses. Birth Defects 1972; 8: 192-196.
-
(1972)
Birth Defects
, vol.8
, pp. 192-196
-
-
Krovetz, L.J.1
Schiebler, G.L.2
-
29
-
-
0017145225
-
The heart in the Hurler syndrome: Gross, histologic and ultrastructural observations in five necropsy cases
-
Renteria VG, Ferrans VJ, Roberts WC. The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases. Am J Cardiol 1976; 38: 487-501.
-
(1976)
Am J Cardiol
, vol.38
, pp. 487-501
-
-
Renteria, V.G.1
Ferrans, V.J.2
Roberts, W.C.3
-
31
-
-
0019471151
-
Coronary artery disease in the Hurler syndrome. Qualitative and quantitative analysis of the extent of coronary narrowing at necropsy in six children
-
Brosius FC, Roberts WC. Coronary artery disease in the Hurler syndrome. Qualitative and quantitative analysis of the extent of coronary narrowing at necropsy in six children. Am J Cardiol 1981; 47: 649-653.
-
(1981)
Am J Cardiol
, vol.47
, pp. 649-653
-
-
Brosius, F.C.1
Roberts, W.C.2
-
32
-
-
0019373959
-
Echocardiographic mitral valve deformity in the mucopolysaccharidoses
-
Johnson GL, Vine DL, Cottrill CM, Noonan JA. Echocardiographic mitral valve deformity in the mucopolysaccharidoses. Pediatrics 1981; 67: 401-406.
-
(1981)
Pediatrics
, vol.67
, pp. 401-406
-
-
Johnson, G.L.1
Vine, D.L.2
Cottrill, C.M.3
Noonan, J.A.4
-
33
-
-
0023760034
-
Echocardiographic abnormalities in the mucopolysaccharide storage diseases
-
Gross DM, Williams JC, Caprioli C et al. Echocardiographic abnormalities in the mucopolysaccharide storage diseases. Am J Cardiol 1988; 61: 170-176.
-
(1988)
Am J Cardiol
, vol.61
, pp. 170-176
-
-
Gross, D.M.1
Williams, J.C.2
Caprioli, C.3
-
34
-
-
0025058103
-
Cardiovascular studies in the mucopolysaccharidoses
-
Nelson J, Shields MD, Mulholland HC. Cardiovascular studies in the mucopolysaccharidoses. J Med Genet 1990; 27: 94-100.
-
(1990)
J Med Genet
, vol.27
, pp. 94-100
-
-
Nelson, J.1
Shields, M.D.2
Mulholland, H.C.3
-
35
-
-
0025335440
-
Echocardiographic abnormalities in type IV mucopolysaccharidosis
-
John RM, Hunter D, Swanton RH. Echocardiographic abnormalities in type IV mucopolysaccharidosis. Arch Dis Child 1990; 65: 746-749.
-
(1990)
Arch Dis Child
, vol.65
, pp. 746-749
-
-
John, R.M.1
Hunter, D.2
Swanton, R.H.3
-
36
-
-
0026511701
-
Hypertrophic cardiomyopathy in mucopolysaccharidoses: Regression after bone marrow transplantation
-
Vinallonga X, Sanz N, Balaguer A et al. Hypertrophic cardiomyopathy in mucopolysaccharidoses: regression after bone marrow transplantation. Pediatr Cardiol 1992; 13: 107-109.
-
(1992)
Pediatr Cardiol
, vol.13
, pp. 107-109
-
-
Vinallonga, X.1
Sanz, N.2
Balaguer, A.3
-
37
-
-
0026721298
-
Evaluation of coronary artery disease in the Hurler syndrome by angiography
-
Braunlin EA, Hunter DW, Krivit W et al. Evaluation of coronary artery disease in the Hurler syndrome by angiography. Am J Cardiol 1992; 69: 1487-1489.
-
(1992)
Am J Cardiol
, vol.69
, pp. 1487-1489
-
-
Braunlin, E.A.1
Hunter, D.W.2
Krivit, W.3
-
38
-
-
0028053405
-
Resting TI-201 scintigraphy in the evaluation of coronary artery disease in children with Hurler syndrome
-
DuCret RP, Weinberg EJ, Jackson CA et al. Resting TI-201 scintigraphy in the evaluation of coronary artery disease in children with Hurler syndrome. Clin Nucl Med 1994; 19: 975-978.
-
(1994)
Clin Nucl Med
, vol.19
, pp. 975-978
-
-
DuCret, R.P.1
Weinberg, E.J.2
Jackson, C.A.3
-
39
-
-
0029117050
-
Cardiac involvement in mucopolysaccharidoses: Effects of allogeneic bone marrow transplantation
-
Gatzoulis MA, Vellodi A, Redington AN. Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation. Arch Dis Child 1995; 73: 259-260.
-
(1995)
Arch Dis Child
, vol.73
, pp. 259-260
-
-
Gatzoulis, M.A.1
Vellodi, A.2
Redington, A.N.3
-
40
-
-
0028889847
-
Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses
-
Wippermann CF, Beck M, Schranz D et al. Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Euro J Pediatr 1995; 154: 98-101.
-
(1995)
Euro J Pediatr
, vol.154
, pp. 98-101
-
-
Wippermann, C.F.1
Beck, M.2
Schranz, D.3
-
41
-
-
0031907997
-
Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation
-
Yamada Y, Kato K, Sukegawa S et al. Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant 1998; 21: 629-634.
-
(1998)
Bone Marrow Transplant
, vol.21
, pp. 629-634
-
-
Yamada, Y.1
Kato, K.2
Sukegawa, S.3
-
42
-
-
0024517211
-
Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I
-
Brieder MA, Schull RM, Constantopoulos G. Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I. Am J Pathol 1989; 134: 677-692.
-
(1989)
Am J Pathol
, vol.134
, pp. 677-692
-
-
Brieder, M.A.1
Schull, R.M.2
Constantopoulos, G.3
-
43
-
-
0025617819
-
Cardiovascular changes after bone marrow transplantation in dogs with mucopolysaccharidosis I
-
Gompf RE, Schull RM, Breider MA et al. Cardiovascular changes after bone marrow transplantation in dogs with mucopolysaccharidosis I. Am J Vet Res 1990; 51: 2054-2060.
-
(1990)
Am J Vet Res
, vol.51
, pp. 2054-2060
-
-
Gompf, R.E.1
Schull, R.M.2
Breider, M.A.3
-
44
-
-
0025719951
-
Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation
-
Birkenmeier EH, Barker JE, Vogler C et al. Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation. Blood 1991; 78: 3081-3092.
-
(1991)
Blood
, vol.78
, pp. 3081-3092
-
-
Birkenmeier, E.H.1
Barker, J.E.2
Vogler, C.3
-
45
-
-
0027258694
-
Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates
-
Sands MS, Barker JE, Vogler C et al. Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates. Lab Invest 1993; 68: 676-686.
-
(1993)
Lab Invest
, vol.68
, pp. 676-686
-
-
Sands, M.S.1
Barker, J.E.2
Vogler, C.3
-
46
-
-
0028260714
-
Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocyes of mycopolysaccharidosis type VII mice
-
Poorthuis BJHM, Romme AE, Willemsen R, Wagemaker G. Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocyes of mycopolysaccharidosis type VII mice. Pediatr Res 1994; 36: 187-193.
-
(1994)
Pediatr Res
, vol.36
, pp. 187-193
-
-
Poorthuis, B.J.H.M.1
Romme, A.E.2
Willemsen, R.3
Wagemaker, G.4
-
47
-
-
0028239145
-
Enzyme replacement therapy for murine mucopolysaccharidosis type VII
-
Sands MS, Vogler C, Kyle JW et al. Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J Clin Invest 1994; 93: 2324-2331.
-
(1994)
J Clin Invest
, vol.93
, pp. 2324-2331
-
-
Sands, M.S.1
Vogler, C.2
Kyle, J.W.3
-
48
-
-
0033515007
-
Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease
-
Daly TM, Vogler C, Levy B et al. Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease. Proc Natl Acad Sci USA 1999; 96: 2296-2300.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 2296-2300
-
-
Daly, T.M.1
Vogler, C.2
Levy, B.3
|