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Volumn 27, Issue 2, 2012, Pages 193-196

Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome

Author keywords

Cord blood; HSCT; Lesch Nyhan syndrome; Transplantation; UCB; Unrelated

Indexed keywords

BUSULFAN; CYCLOPHOSPHAMIDE; HLA A ANTIGEN; HLA DRB1 ANTIGEN; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; THYMOCYTE ANTIBODY; THYMOGLOBIN; UNCLASSIFIED DRUG;

EID: 84863423813     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-012-9279-9     Document Type: Article
Times cited : (8)

References (17)
  • 1
    • 0041831258 scopus 로고    scopus 로고
    • Busulfan induces activin A expression in vitro and in vivo: A possible link to venous occlusive disease
    • Dressel D, Ritter CA, Sperker B et al (2003) Busulfan induces activin A expression in vitro and in vivo: a possible link to venous occlusive disease. Clin Pharmacol Ther 74(3):264-274
    • (2003) Clin Pharmacol Ther , vol.74 , Issue.3 , pp. 264-274
    • Dressel, D.1    Ritter, C.A.2    Sperker, B.3
  • 2
    • 0025896886 scopus 로고
    • Bone marrow transplantation in Lesch-Nyhan disease
    • Enders W, Helmig M, Shin YS et al (1991) Bone marrow transplantation in Lesch-Nyhan disease. J Inherit Metab Dis 14:270-271
    • (1991) J Inherit Metab Dis , vol.14 , pp. 270-271
    • Enders, W.1    Helmig, M.2    Shin, Y.S.3
  • 3
    • 51649107896 scopus 로고    scopus 로고
    • Variable expression of HPRT deficiency in 5 members of a family with the same mutation
    • Hladnik U, Nyhan WL, Bertelli M (2008) Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch Neurol 65:1240-1243
    • (2008) Arch Neurol , vol.65 , pp. 1240-1243
    • Hladnik, U.1    Nyhan, W.L.2    Bertelli, M.3
  • 4
    • 0033799868 scopus 로고    scopus 로고
    • The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
    • Jinnah HA, De Gregorio L, Harris JC et al (2000) The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 463(3):309-326
    • (2000) Mutat Res , vol.463 , Issue.3 , pp. 309-326
    • Jinnah, H.A.1    De Gregorio, L.2    Harris, J.C.3
  • 5
    • 77950199824 scopus 로고    scopus 로고
    • Attenuated variants of Lesch-Nyhan disease
    • Jinnah HA, Ceballos-Picot I, Torres RJ et al (2010) Attenuated variants of Lesch-Nyhan disease. Brain 133 (Pt 3):671
    • (2010) Brain , vol.133 , Issue.3 PART , pp. 671
    • Jinnah, H.A.1    Ceballos-Picot, I.2    Torres, R.J.3
  • 6
    • 0029143678 scopus 로고
    • Microglia: The effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases
    • Krivit W, Sung JH, Shapiro EG, Lockman LA (1995) Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant 4(4):385
    • (1995) Cell Transplant , vol.4 , Issue.4 , pp. 385
    • Krivit, W.1    Sung, J.H.2    Shapiro, E.G.3    Lockman, L.A.4
  • 7
    • 28344455215 scopus 로고    scopus 로고
    • X-linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes
    • Mahmood A, Dubey P, Moser HW, Moser A (2005) X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes. Pediatr Transplant 9 (Suppl 7):55
    • (2005) Pediatr Transplant , vol.9 , Issue.7 SUPPL. , pp. 55
    • Mahmood, A.1    Dubey, P.2    Moser, H.W.3    Moser, A.4
  • 9
    • 0022498947 scopus 로고
    • Bone marrow transplantation in Lesch-Nyhan disease
    • Nyhan WL, Parkman R, Page T et al (1985) Bone marrow transplantation in Lesch-Nyhan disease. Adv Exp Med Biol 195 A: 167-170
    • (1985) Adv Exp Med Biol , vol.195 A , pp. 167-170
    • Nyhan, W.L.1    Parkman, R.2    Page, T.3
  • 10
    • 0024362609 scopus 로고
    • Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector
    • Palella TD, Hidaka Y, Silverman LJ et al (1989) Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector. Gene 80(1):137-144
    • (1989) Gene , vol.80 , Issue.1 , pp. 137-144
    • Palella, T.D.1    Hidaka, Y.2    Silverman, L.J.3
  • 11
    • 0035068003 scopus 로고    scopus 로고
    • The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families
    • Puig JG, Torres RJ, Mateos FA et al (2001) The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore) 80(2):102
    • (2001) Medicine (Baltimore) , vol.80 , Issue.2 , pp. 102
    • Puig, J.G.1    Torres, R.J.2    Mateos, F.A.3
  • 12
    • 77953639403 scopus 로고    scopus 로고
    • Lesch-Nyhan variant syndrome: Variable presentation in 3 affected family members
    • Sarafoglou K, Grosse-Redlinger K, Boys CJ et al (2010) Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. Arch Neurol 67:761-764
    • (2010) Arch Neurol , vol.67 , pp. 761-764
    • Sarafoglou, K.1    Grosse-Redlinger, K.2    Boys, C.J.3
  • 13
    • 0033506323 scopus 로고    scopus 로고
    • Adenoviruses encoding HPRT correct biochemical abnormalities of HPRTdeficient cells and allow their survival in negative selection medium
    • Southgate TD, Bain D, Fairbanks LD et al (1999) Adenoviruses encoding HPRT correct biochemical abnormalities of HPRTdeficient cells and allow their survival in negative selection medium. Metab Brain Dis 14(4):205-221
    • (1999) Metab Brain Dis , vol.14 , Issue.4 , pp. 205-221
    • Southgate, T.D.1    Bain, D.2    Fairbanks, L.D.3
  • 14
    • 0030473770 scopus 로고    scopus 로고
    • Engineering a mini-herpesvirus as a general strategy to transduce up to 180 kb of functional self-replicating human mini-chromosomes
    • Sun TQ, Livanos E, Vos JM (1996) Engineering a mini-herpesvirus as a general strategy to transduce up to 180 kb of functional self-replicating human mini-chromosomes. Gene Ther 3(12):1081-1088
    • (1996) Gene Ther , vol.3 , Issue.12 , pp. 1081-1088
    • Sun, T.Q.1    Livanos, E.2    Vos, J.M.3
  • 15
    • 40449085705 scopus 로고    scopus 로고
    • Endothelial cells do not express GSTA1: Potential relevance to busulfan-mediated endothelialdamage during haematopoietic stem cell transplantation
    • Vassord C, Lapouméroulie C, Koumaravelou K, Srivastava A, Krishnamoorthy R (2008) Endothelial cells do not express GSTA1: potential relevance to busulfan-mediated endothelialdamage during haematopoietic stem cell transplantation. Eur J Haematol 80(4):299-302
    • (2008) Eur J Haematol , vol.80 , Issue.4 , pp. 299-302
    • Vassord, C.1    Lapouméroulie, C.2    Koumaravelou, K.3    Srivastava, A.4    Krishnamoorthy, R.5
  • 16
    • 0033669478 scopus 로고    scopus 로고
    • Stable correction of a genetic deficiency in human cells by an episome carrying a 115 kb genomic transgene
    • Wade-Martins R, White RE, Kimura H, Cook PR, James MR (2000) Stable correction of a genetic deficiency in human cells by an episome carrying a 115 kb genomic transgene. Nat Biotechnol 18(12):1311-1314
    • (2000) Nat Biotechnol , vol.18 , Issue.12 , pp. 1311-1314
    • Wade-Martins, R.1    White, R.E.2    Kimura, H.3    Cook, P.R.4    James, M.R.5
  • 17
    • 0032901011 scopus 로고    scopus 로고
    • Bone marrow transplantation does not ameliorate the neurolgic symptoms in mice deficient in hypoxanthine-guanine phosphoribosyl transferase (HPRT)
    • Wojcik BE, Jinnah HA, Muller-Sieburg CE, Friedmann T (1999) Bone marrow transplantation does not ameliorate the neurolgic symptoms in mice deficient in hypoxanthine-guanine phosphoribosyl transferase (HPRT). Metab Brain Dis 14(1):57-65
    • (1999) Metab Brain Dis , vol.14 , Issue.1 , pp. 57-65
    • Wojcik, B.E.1    Jinnah, H.A.2    Muller-Sieburg, C.E.3    Friedmann, T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.