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Volumn 133, Issue 1, 1998, Pages 7-9

Hurler syndrome: Past, present, and future

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; GLUCURONIC ACID; GLYCOSAMINOGLYCAN; HLA ANTIGEN; LEVO IDURONIDASE;

EID: 0031901906     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70170-2     Document Type: Editorial
Times cited : (46)

References (31)
  • 1
    • 0019466750 scopus 로고
    • Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone marrow transplantation
    • J Hobbs K Hugh-Jones A Barrett N Byrom D Chambers K Henry Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone marrow transplantation Lancet 2 1981 709 712
    • (1981) Lancet , vol.2 , pp. 709-712
    • Hobbs, J1    Hugh-Jones, K2    Barrett, A3    Byrom, N4    Chambers, D5    Henry, K6
  • 2
    • 0031018301 scopus 로고    scopus 로고
    • Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres
    • A Vellodi E Young A Cooper JE Wraith B Winchester C Meaney Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres Arch Dis Child 76 1997 92 99
    • (1997) Arch Dis Child , vol.76 , pp. 92-99
    • Vellodi, A1    Young, E2    Cooper, A3    Wraith, JE4    Winchester, B5    Meaney, C6
  • 3
    • 0031926575 scopus 로고    scopus 로고
    • Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
    • N Guffon G Souillet I Maire J Straczek P Guibaud Follow-up of nine patients with Hurler syndrome after bone marrow transplantation J Pediatr 133 1998 119 125
    • (1998) J Pediatr , vol.133 , pp. 119-125
    • Guffon, N1    Souillet, G2    Maire, I3    Straczek, J4    Guibaud, P5
  • 4
    • 0013549598 scopus 로고
    • Mutation analysis and clinical outcome of patients with Hurler syndrome (mucopolysaccharidosis type I-H) undergoing bone marrow transplantation [abstract]
    • C Whitley W Krivit N Ramsay J Kersey P Chang K Latchaw Mutation analysis and clinical outcome of patients with Hurler syndrome (mucopolysaccharidosis type I-H) undergoing bone marrow transplantation [abstract] Am J Hum Genet 53 1993 101
    • (1993) Am J Hum Genet , vol.53 , pp. 101
    • Whitley, C1    Krivit, W2    Ramsay, N3    Kersey, J4    Chang, P5    Latchaw, K6
  • 6
    • 0029634283 scopus 로고
    • Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation
    • P Hoogerbrugge O Brouwer P Bordigoni O Ringden P Kapaun JJ Ortega Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation Lancet 345 1995 1398 1402
    • (1995) Lancet , vol.345 , pp. 1398-1402
    • Hoogerbrugge, P1    Brouwer, O2    Bordigoni, P3    Ringden, O4    Kapaun, P5    Ortega, JJ6
  • 7
    • 9344245169 scopus 로고    scopus 로고
    • Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
    • C Peters M Balthazor EG Shapiro RJ King C Kollman JD Hegland Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome Blood 87 1996 4894 4902
    • (1996) Blood , vol.87 , pp. 4894-4902
    • Peters, C1    Balthazor, M2    Shapiro, EG3    King, RJ4    Kollman, C5    Hegland, JD6
  • 8
    • 0032055564 scopus 로고    scopus 로고
    • Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children
    • C Peters E Shapiro J Anderson Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children Blood 91 1998 2601 2608
    • (1998) Blood , vol.91 , pp. 2601-2608
    • Peters, C1    Shapiro, E2    Anderson, J3
  • 9
    • 0027017317 scopus 로고
    • A common mutation for mucopolysaccharidosis Type I associated with a severe Hurler syndrome phenotype
    • H Scott T Litjens J Hopwood C Morris A common mutation for mucopolysaccharidosis Type I associated with a severe Hurler syndrome phenotype Hum Mut 1 1992 103 108
    • (1992) Hum Mut , vol.1 , pp. 103-108
    • Scott, H1    Litjens, T2    Hopwood, J3    Morris, C4
  • 10
    • 0027018480 scopus 로고
    • Alpha-L-iduronidase mutations (Q70X and P533X) associate with a severe Hurler phenotype
    • H Scott T Litjens P Nelson D Brooks J Hopwood C Morris Alpha-L-iduronidase mutations (Q70X and P533X) associate with a severe Hurler phenotype Hum Mut 1 1992 333 339
    • (1992) Hum Mut , vol.1 , pp. 333-339
    • Scott, H1    Litjens, T2    Nelson, P3    Brooks, D4    Hopwood, J5    Morris, C6
  • 11
    • 0027405928 scopus 로고
    • A deletion/insertion mutation in the DUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH)
    • S Moskowitz P Tieu E Neufeld A deletion/insertion mutation in the DUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH) Hum Mut 2 1993 71 73
    • (1993) Hum Mut , vol.2 , pp. 71-73
    • Moskowitz, S1    Tieu, P2    Neufeld, E3
  • 12
    • 0027379866 scopus 로고
    • Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the DUA gene in a small geographic area
    • G Bach S Moskowitz P Tieu A Matynia E Neufeld Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the DUA gene in a small geographic area Am J Hum Genet 53 1993 330 338
    • (1993) Am J Hum Genet , vol.53 , pp. 330-338
    • Bach, G1    Moskowitz, S2    Tieu, P3    Matynia, A4    Neufeld, E5
  • 13
    • 0027332379 scopus 로고
    • Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes
    • HS Scott T Litjens PV Nelson PR Thompson DA Brooks JJ Hopwood Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes Am J Hum Genet 53 1993 973 986
    • (1993) Am J Hum Genet , vol.53 , pp. 973-986
    • Scott, HS1    Litjens, T2    Nelson, PV3    Thompson, PR4    Brooks, DA5    Hopwood, JJ6
  • 14
    • 0028363785 scopus 로고
    • Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
    • S Bunge WJ Kleijer C Steglich M Beck C Zuther CP Morris Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients Human Mol Genet 3 1994 861 866
    • (1994) Human Mol Genet , vol.3 , pp. 861-866
    • Bunge, S1    Kleijer, WJ2    Steglich, C3    Beck, M4    Zuther, C5    Morris, CP6
  • 15
    • 0000820862 scopus 로고
    • The mucopolysaccharidoses
    • E Neufeld J Muenzer The mucopolysaccharidoses C Scriver A Beaudet W Sly D Valle The metabolic and molecular bases of inherited disease Vol 2 1995 : McGraw-Hill New York 2485
    • (1995) , pp. 2485
    • Neufeld, E1    Muenzer, J2
  • 16
    • 0026701698 scopus 로고
    • Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation
    • JM Resnick W Krivit DC Snover JH Kersey NKC Ramsay BR Blazar Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation Bone Marrow Transplant 10 1992 273 280
    • (1992) Bone Marrow Transplant , vol.10 , pp. 273-280
    • Resnick, JM1    Krivit, W2    Snover, DC3    Kersey, JH4    Ramsay, NKC5    Blazar, BR6
  • 17
    • 0028267262 scopus 로고
    • Light and electron microscopic features of the liver in mucopolysaccharidosis
    • JM Resnick CB Whitley AS Leonard W Krivit DC Snover Light and electron microscopic features of the liver in mucopolysaccharidosis Hum Pathol 25 1994 276 286
    • (1994) Hum Pathol , vol.25 , pp. 276-286
    • Resnick, JM1    Whitley, CB2    Leonard, AS3    Krivit, W4    Snover, DC5
  • 18
    • 0027456624 scopus 로고
    • Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings
    • KG Belani W Krivit BLM Carpenter E Braunlin JJ Buckley J-C Liao Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings J Pediatr Surg 28 1993 403 410
    • (1993) J Pediatr Surg , vol.28 , pp. 403-410
    • Belani, KG1    Krivit, W2    Carpenter, BLM3    Braunlin, E4    Buckley, JJ5    Liao, J-C6
  • 20
    • 0000966871 scopus 로고
    • Bone marrow transplantation for treatment of lysosomal and peroxisomal storage diseases: focus on central nervous system reconstitution
    • W Krivit JH Sung LA Lockman EG Shapiro Bone marrow transplantation for treatment of lysosomal and peroxisomal storage diseases: focus on central nervous system reconstitution RR Rich TA Fleisher BD Schwartz WT Shearer W Strober Principles of clinical immunology Vol 2 1995 : Mosby St. Louis (MO) 1852 1864
    • (1995) , pp. 1852-1864
    • Krivit, W1    Sung, JH2    Lockman, LA3    Shapiro, EG4
  • 21
    • 0029114944 scopus 로고
    • The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome
    • W Krivit LA Lockman PA Watkins J Hirsch EG Shapiro The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome J Inher Metab Dis 18 1995 398 412
    • (1995) J Inher Metab Dis , vol.18 , pp. 398-412
    • Krivit, W1    Lockman, LA2    Watkins, PA3    Hirsch, J4    Shapiro, EG5
  • 23
    • 0028053405 scopus 로고
    • Resting T1-201 scintigraphy in the evaluation of coronary artery disease in children with Hurler syndrome
    • RP duCret EJ Weinberg CA Jackson EA Braunlin RJ Boudreau CC Kuni Resting T1-201 scintigraphy in the evaluation of coronary artery disease in children with Hurler syndrome Clin Nucl Med 19 1994 975 978
    • (1994) Clin Nucl Med , vol.19 , pp. 975-978
    • duCret, RP1    Weinberg, EJ2    Jackson, CA3    Braunlin, EA4    Boudreau, RJ5    Kuni, CC6
  • 25
    • 0027275150 scopus 로고
    • Male donor-derived cells in the brains of female sex-mismatched bone marrow transplant recipients: a Y-chromosome specific in situ hybridization study
    • E Unger J Sung J Manivel M Chenggis B Blazar W Krivit Male donor-derived cells in the brains of female sex-mismatched bone marrow transplant recipients: a Y-chromosome specific in situ hybridization study J Neuropathol Exp Neurol 52 1993 460 470
    • (1993) J Neuropathol Exp Neurol , vol.52 , pp. 460-470
    • Unger, E1    Sung, J2    Manivel, J3    Chenggis, M4    Blazar, B5    Krivit, W6
  • 26
    • 0000966871 scopus 로고
    • Central nervous system reconstitution after bone marrow transplantation for lysosomal and peroxisomal storage diseases
    • W Krivit J Sung L Lockman E Shapiro Central nervous system reconstitution after bone marrow transplantation for lysosomal and peroxisomal storage diseases RR Rich TA Fleisher BD Schwartz WT Shearer W Strober Principles of clinical immunology Vol 2 1995 : Mosby St. Louis (MO) 1852
    • (1995) , pp. 1852
    • Krivit, W1    Sung, J2    Lockman, L3    Shapiro, E4
  • 27
    • 0028032831 scopus 로고
    • Bone marrow transplantation in Hurler syndrome. Effect on skeletal development
    • RE Field JAF Buchanan MGJ Copplemans PM Aichroth Bone marrow transplantation in Hurler syndrome. Effect on skeletal development J Bone Joint Surg Br 76B 1994 975 981
    • (1994) J Bone Joint Surg Br , vol.76B , pp. 975-981
    • Field, RE1    Buchanan, JAF2    Copplemans, MGJ3    Aichroth, PM4
  • 28
    • 0032451537 scopus 로고    scopus 로고
    • Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage diseases
    • A Van Heest J House W Krivit K Walker Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage diseases J Hand Surg 23A 1998 236 243
    • (1998) J Hand Surg , vol.23A , pp. 236-243
    • Van Heest, A1    House, J2    Krivit, W3    Walker, K4
  • 29
    • 0030889354 scopus 로고    scopus 로고
    • Marrow stromal cells as stem cells for nonhematopoietic tissues
    • D Prockop Marrow stromal cells as stem cells for nonhematopoietic tissues Science 276 1997 71 74
    • (1997) Science , vol.276 , pp. 71-74
    • Prockop, D1
  • 30
    • 0029664491 scopus 로고    scopus 로고
    • Assessment of quality-of-life outcomes
    • MA Testa DC Simonson Assessment of quality-of-life outcomes N Engl J Med 334 1996 835 840
    • (1996) N Engl J Med , vol.334 , pp. 835-840
    • Testa, MA1    Simonson, DC2
  • 31
    • 0030221033 scopus 로고    scopus 로고
    • Long-term and high-dose trials of enzyme replacement therapy in the canine model of Mucopolysaccharidosis I
    • ED Kakkis MF McEntee A Schmidtchen EF Neufeld DA Ward RE Gompf Long-term and high-dose trials of enzyme replacement therapy in the canine model of Mucopolysaccharidosis I Biochem Molec Med 58 1996 156 167
    • (1996) Biochem Molec Med , vol.58 , pp. 156-167
    • Kakkis, ED1    McEntee, MF2    Schmidtchen, A3    Neufeld, EF4    Ward, DA5    Gompf, RE6


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