-
1
-
-
0344329883
-
Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis
-
DOI 10.1093/hmg/8.8.1365
-
Stinchi S, Lullmann-Rauch R, Hartmann D, Coenen R, Beccari T, Orlacchio A et al. Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. Hum Mol Genet 1999; 8: 1365-1372. (Pubitemid 29374069)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.8
, pp. 1365-1372
-
-
Stinchi, S.1
Lullmann-Rauch, R.2
Hartmann, D.3
Coenen, R.4
Beccari, T.5
Orlacchio, A.6
Von Figura, K.7
Saftig, P.8
-
2
-
-
0025248428
-
In vitro hydrolysis of oligomannosyl oligosaccharides by the lysosomal alpha;-D-mannosidases
-
Michalski J, Haeuw J, Wieruszeski J, Montreuil J, Strecker G. In vitro hydrolysis of oligomannosyl oligosaccharides by the lysosomal alpha-d-mannosidases. Eur J Biochem 1990; 189: 369-379. (Pubitemid 20146021)
-
(1990)
European Journal of Biochemistry
, vol.189
, Issue.2
, pp. 369-379
-
-
Michalski, J.-C.1
Haeuw, J.-F.2
Wieruszeski, J.-M.3
Montreuil, J.4
Strecker, G.5
-
4
-
-
35648978066
-
Early onset alpha-mannosidosis with slow progression in three hispanic males
-
DOI 10.1111/j.1469-8749.2007.00854.x
-
Lyons MJ, Wood T, Espinoza L, Stensland HM, Holden KR. Early onset alpha-mannosidosis with slow progression in three Hispanic males. Dev Med Child Neurol 2007; 49: 854-857. (Pubitemid 350020448)
-
(2007)
Developmental Medicine and Child Neurology
, vol.49
, Issue.11
, pp. 854-857
-
-
Lyons, M.J.1
Wood, T.2
Espinoza, L.3
Stensland, H.M.F.R.4
Holden, K.R.5
-
5
-
-
0017030211
-
Clinical manifestations of mannosidosis. A longitudinal study
-
DOI 10.1016/0002-9343(76)90408-3
-
Yunis JJ, Lewandowski RC, Sanfilippo SJ, Tsai MY, Foni I, Bruhl HH. Clinical manifestations of mannosidosis - a longitudinal study. Am J Med 1976; 61: 841-848. (Pubitemid 8007444)
-
(1976)
American Journal of Medicine
, vol.61
, Issue.6
, pp. 841-848
-
-
Yunis, J.J.1
Lewandowski Jr., R.C.2
Sanfilippo, S.J.3
-
6
-
-
0033360972
-
Spectrum of mutations in alpha-mannosidosis
-
Berg T, Riise HMF, Hansen GM, Malm D, Tranebjærg L, Tollersrud OK et al. Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet 1999; 64: 77-88.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 77-88
-
-
Berg, T.1
Riise, H.M.F.2
Hansen, G.M.3
Malm, D.4
Tranebjærg, L.5
Tollersrud, O.K.6
-
7
-
-
0027191284
-
Oral zinc therapy in the treatment of alpha-mannosidosis
-
Wong LT, Vallance H, Savage A, Davidson AG, Applegarth D. Oral zinc therapy in the treatment of alpha-mannosidosis. Am J Med Genet 1993; 46: 410-414. (Pubitemid 23149683)
-
(1993)
American Journal of Medical Genetics
, vol.46
, Issue.4
, pp. 410-414
-
-
Wong, L.T.K.1
Vallance, H.2
Savage, A.3
Davidson, A.G.F.4
Applegarth, D.5
-
8
-
-
33747008880
-
Enzyme replacement therapy in alpha-mannosidosis guinea-pigs
-
DOI 10.1016/j.ymgme.2006.05.005, PII S1096719206001855
-
Crawley AC, King B, Berg T, Meikle PJ, Hopwood JJ. Enzyme replacement therapy in alpha-mannosidosis guinea-pigs. Mol Genet Metab 2006; 89: 48-57. (Pubitemid 44205477)
-
(2006)
Molecular Genetics and Metabolism
, vol.89
, Issue.1-2
, pp. 48-57
-
-
Crawley, A.C.1
King, B.2
Berg, T.3
Meikle, P.J.4
Hopwood, J.J.5
-
9
-
-
54949131011
-
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice
-
Blanz J, Stroobants S, Lullmann-Rauch R, Morelle W, Ludemann M, D'Hooge R et al. Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. Hum Mol Genet 2008; 17: 3437-3445.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3437-3445
-
-
Blanz, J.1
Stroobants, S.2
Lullmann-Rauch, R.3
Morelle, W.4
Ludemann, M.5
D'Hooge, R.6
-
10
-
-
14844284635
-
Effective gene therapy for an inherited CNS disease in a large animal model
-
DOI 10.1002/ana.20392
-
Vite CH, McGowan JC, Niogi SN, Passini MA, Drobatz KJ, Haskins ME et al. Effective gene therapy for an inherited CNS disease in a large animal model. Ann Neurol 2005; 57: 355-364. (Pubitemid 40343957)
-
(2005)
Annals of Neurology
, vol.57
, Issue.3
, pp. 355-364
-
-
Vite, C.H.1
McGowan, J.C.2
Niogi, S.3
Passini, M.A.4
Drobatz, K.J.5
Haskins, M.E.6
Wolfe, J.H.7
-
11
-
-
0028324026
-
Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease
-
Walkley SU, Thrall MA, Dobrenis K, Huang M, March PA, Siegel DA et al. Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. Proc Natl Acad Sci USA 1994; 91: 2970-2974. (Pubitemid 24130156)
-
(1994)
Proceedings of the National Academy of Sciences of the United States of America
, vol.91
, Issue.8
, pp. 2970-2974
-
-
Walkley, S.U.1
Thrall, M.A.2
Dobrenis, K.3
Huang, M.4
March, P.A.5
Siegel, D.A.6
Wurzelmann, S.7
-
12
-
-
10744221733
-
T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis
-
DOI 10.1038/sj.bmt.1704148
-
Albert MH, Schuster F, Peters C, Schulze S, Pontz BF, Muntau AC et al. T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis. Bone Marrow Transplant 2003; 32: 443-446. (Pubitemid 37038857)
-
(2003)
Bone Marrow Transplantation
, vol.32
, Issue.4
, pp. 443-446
-
-
Albert, M.H.1
Schuster, F.2
Peters, C.3
Schulze, S.4
Pontz, B.F.5
Muntau, A.C.6
Roschinger, W.7
Stachel, D.K.8
Enders, A.9
Haas, R.J.10
Schmid, I.11
-
13
-
-
84897923340
-
The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?
-
Feb 18 (doi:10.1007/s10545-009-9035-4)
-
Broomfield AA, Chakrapani A, Wraith JE. The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option? J Inherit Metab Dis 2010 Feb 18 (doi:10.1007/s10545-009-9035-4).
-
(2010)
J Inherit Metab Dis
-
-
Broomfield, A.A.1
Chakrapani, A.2
Wraith, J.E.3
-
14
-
-
2342551124
-
Effective treatment of a-mannosidosis by allogeneic hematopoietic stem cell transplantation
-
DOI 10.1016/j.jpeds.2004.01.025
-
Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA et al. Effective treatment of a-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr 2004; 144: 569-573. (Pubitemid 38594755)
-
(2004)
Journal of Pediatrics
, vol.144
, Issue.5
, pp. 569-573
-
-
Grewal, S.S.1
Shapiro, E.G.2
Krivit, W.3
Charnas, L.4
Lockman, L.A.5
Delaney, K.A.6
Davies, S.M.7
Wenger, D.A.8
Rimell, F.L.9
Abel, S.10
Grovas, A.C.11
Orchard, P.J.12
Wagner, J.E.13
Peters, C.14
-
15
-
-
0031928891
-
Bone marrow transplantation for the treatment of alpha-mannosidosis
-
Wall DA, Grange DK, Goulding P, Daines M, Luisiri A, Kotagal S. Bone marrow transplantation for the treatment of alpha-mannosidosis. J Pediatr 1998; 133: 282-285. (Pubitemid 28385212)
-
(1998)
Journal of Pediatrics
, vol.133
, Issue.2
, pp. 282-285
-
-
Wall, D.A.1
Grange, D.K.2
Goulding, P.3
Daines, M.4
Luisiri, A.5
Kotagal, S.6
-
16
-
-
0023638741
-
Bone marrow transplantation in the treatment of alpha-mannosidosis
-
Will A, Cooper A, Hatton C, Sardharwalla IB, Evans DI, Stevens RF. Bone marrow transplantation in the treatment of alpha-mannosidosis. Arch Dis Child 1987; 62: 1044-1049. (Pubitemid 17155053)
-
(1987)
Archives of Disease in Childhood
, vol.62
, Issue.10
, pp. 1044-1049
-
-
Will, A.1
Cooper, A.2
Hatton, C.3
Sardharwalla, I.B.4
Evans, D.I.K.5
Stevens, R.F.6
-
17
-
-
41849119871
-
The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation
-
DOI 10.1016/j.bbmt.2008.01.009, PII S1083879108000529
-
Aldenhofen M, Boelens J, DeKoenig TJ. The clinical outcome of Hurler syndrome after stem cell transplantation. Biol Blood Marrow Transplant 2008; 14: 485-498. (Pubitemid 351494741)
-
(2008)
Biology of Blood and Marrow Transplantation
, vol.14
, Issue.5
, pp. 485-498
-
-
Aldenhoven, M.1
Boelens, J.2
De Koning, T.J.3
-
18
-
-
74049108936
-
Cord blood and bone marrow transplantation in inherited metabolic diseases: Scientific basis, current status and future directions
-
Prasad VK, Kurtzberg J. Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. Br J Haematol 2010; 148: 356-372.
-
(2010)
Br J Haematol
, vol.148
, pp. 356-372
-
-
Prasad, V.K.1
Kurtzberg, J.2
-
19
-
-
3142672801
-
Unmanipulated HLA-haploidentical bone marrow transplantation for the treatment of fatal, nonmalignant diseases in children and adolescents
-
DOI 10.1532/IJH97.04004
-
Yabe H, Inoue H, Matsumoto M, Hamanoue S, Hiroi A, Koike T et al. Unmanipulated HLA-haploidentical bone marrow transplantation for the treatment of fatal, nonmalignant diseases in children and adolescents. Int J Hematol 2004; 80: 78-82. (Pubitemid 38937881)
-
(2004)
International Journal of Hematology
, vol.80
, Issue.1
, pp. 78-82
-
-
Yabe, H.1
Inoue, H.2
Matsumoto, M.3
Hamanoue, S.4
Hiroi, A.5
Koike, T.6
Sako, M.7
Fujiwara, M.8
Ueda, Y.9
Maruya, E.10
Saji, H.11
Kato, S.12
Yabe, M.13
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