Hematopoietic Cell Transplantation for Storage Diseases

Thomas' Hematopoietic Cell Transplantation: Stem Cell Transplantation, Fourth Edition

Volumn , Issue , 2009, Pages 1136-1162

  Peters, Charles ^a  

^a UNIVERSITY OF MISSOURI KANSAS CITY   (United States)

Author keywords

Hematopoietic cell transplantation; Hematopoietic cell transplantation for storage diseases; Maroteaux Lamy syndrome (MPS VI) another MPS disorder; MPSs and mucolipidoses; Nontransplant approaches; Orthopaedic management of mucopolysaccharidosis (MPS) patients; Sanfi lippo syndrome (MPS III); Vanishing white matter disease (VWMD); Wolman syndrome is autosomal recessive disorder

Indexed keywords

EID: 84890600053     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781444303537.ch77     Document Type: Chapter

References (172)

1. Fratantoni JC, Hall CW, Neufeld EF. The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc Natl Acad Sci USA 1969; 64: 360-6.
2. Neufeld EF. Lysosomal storage diseases. Annu Rev Biochem 1991; 60: 257-80.
3. Chao HH-J, Waheed A, Pohlmann R, Hille A, von Figura K. Mannose-6-phosphate receptor dependent secretion of lysosomal enzymes. EMBO J 1990; 9: 3507-13.
4. Pfeffer SR. Targeting of proteins to the lysosome. Curr Top Microbiol Immunol 1991; 170: 43-65.
5. Rodman JS, Mercer RW, Stahl PD. Endocytosis and transcytosis. Curr Opin Cell Biol 1990; 2: 664-72.
6. Jenkins HG, Martin J, Dean MF. Recptor-mediated uptake of ß-glucuronidase into primarly astrocytes and C6 glioma cells from rat brain. Brain Res 1988; 462: 265-74.
7. Perry VH, Gordon S. Macrophages and the nervous system. Int Rev Cytol 1991; 125: 203-44.
8. Krivit W, Sung JH, Shapiro EG, Lockman LA. Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant 1995; 4: 385-92.
9. Giulian D. Ameboid microglia as effectors of inflammation in the central nervous system. J Neurosci Res 1987; 18: 155-71.
10. Hickey WF. Migration of hematogenous cells through the blood-brain barrier and the initiation of CNS inflammation. Brain Pathol 1991; 1: 97-105.
11. Kennedy DW, Abkowitz JL. Kinetics of central nervous system microglial and macrophage engraftment: analysis using a transgenic bone marrow transplantation model. Blood 1997; 90: 986-93.
12. Hobbs J, Hugh-Jones K, Barrett AJ et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bonemarrow transplantation. Lancet 1981; 2: 709-12.
13. Krivit W, Pierpont ME, Ayaz K et al. Bonemarrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). N Engl J Med 1984; 311: 1606-11.
14. Aubourg P, Blanche S, Jambaque I et al. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 1990; 322: 1860-6.
15. Krivit W, Shapiro E, Peters C et al. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. N Engl J Med 1998; 338: 1119-26.
16. Krivit W, Shapiro E, Kennedy W et al. Treatment of late-infantile metachromatic leukodystrophy by bone marrow transplantation. N Engl J Med 1990; 322: 28-32.
17. Peters C, Balthazor M, Shapiro EG et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996; 87: 4894-902.
18. Peters C, Shapiro EG, Anderson J et al. 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 1998; 91: 2601-8.
19. Vellodi A, Young E, Cooper A et al. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child 1997; 76: 92-9.
20. Peters C, Charnas LR, Tan Y et al. Cerebral Xlinked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004; 104: 881-8.
21. Grigull L, Beilken A, Schrappe M et al. Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis IH (M. Hurler). Bone Marrow Transplant 2005; 35: 265-9.
22. Staba SL, Escolar ML, Poe M et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004; 350: 1960-9.
23. Escolar ML, Poe MD, Provenzale JM et al. Transplantation of umbilical-cord-blood in babies with infantile Krabbe's disease. N Engl J Med 2005; 352: 2069-81.
24. Grewal SS, Wynn R, Abdenur JE et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med 2005; 7: 143-6.
25. Cox-Brinkman J, Boelens JJ, Wraith JE et al. Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant 2006; 38: 17-21.
26. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001; pp. 3421-52.
27. Kornfeld S, Sly WS. I-cell disease and pseudo- Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw- Hill; 2001. pp. 3469-82.
28. Souillet G, Guffon N, Maire I et al. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 2003; 31: 1105-17.
29. Whitley CB, Belani KG, Chang PN et al. Longterm outcome of Hurler syndrome following bone marrow transplantation. Am J Hum Genet 1993; 46: 209-18.
30. Krivit W, Sung JH, Lockman L et al. Bone marrow transplantation for the treatment of lysosomal and peroxisomal diseases: focus on central nervous system reconstitution. In: Rich RR, Fleisher TA, Schwartz BD, editors. Principles of Clinical Immunology. St Louis: Mosby; 1995. pp. 1852-64.
31. Phipps S, Mulhern R. Developmental outcome of unrelated donor bone marrow transplantation in children with Hurler syndrome. Blood 1997; 89: 732-4.
32. Peters C, Shapiro EG, Krivit W. Hurler syndrome. Past, present, and future. J Pediatr 1998; 133: 7-9.
33. Fleming DR, Henslee-Downey PJ, Ciocci G et al. The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I. Pediatr Transplant 1998; 2: 299-304.
34. Peters C, Shapiro EG, Krivit W. Neuropsychological development in children with Hurler syndrome following hematopoietic stem cell transplantation. Pediatr Transplant 1998; 2: 250-4.
35. Gassas A, Sung L, Doyle JJ, Clarke JT, Saunders EF. Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature. Bone Marrow Transplant 2003; 32: 213-15.
36. Snyder MJ, Bradford WD, Kishnani PS, Hale LP. Idiopathic hyperammonemia following an unrelated cord blood transplant for mucopolysaccharidosis I. Pediatr Dev Pathol 2002; 6: 78-83.
37. Grewal SS, Krivit W, Defor TE et al. Outcome of second hematopoietic cell transplantation in Hurler syndrome. Bone Marrow Transplant 2002; 29: 491-6.
38. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop 2004; 24: 97-101.
39. Dusing SC, Rosenberg A, Hiemenz JR, Piner S, Escolar M. Gross and fine motor skills of children with Hurler syndrome (MPS-IH) post umbilical cord blood transplantation: a case series report. Pediatr Phys Ther 2005; 17: 264-7.
40. Bjoraker KJ, Delaney K, Peters C, Krivit W, Shapiro EG. Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. J Dev Behav Pediatr 2006; 27: 290-6.
41. Jacobson P, Park JJ, DeFor TE et al. Oral busulfan pharmacokinetics and engraftment in children with Hurler syndrome and other inherited metabolic storage diseases undergoing hematopoietic cell transplantation. Bone Marrow Transplant 2001; 27: 855-61.
42. Conway J, Dyack S, Crooks BN, Fernandez CV. Mixed donor chimerism and low level iduronidase expression may be adequate for neurodevelopmental protection in Hurler syndrome. J Pediatr 2005; 147: 106-8.
43. Church H, Tylee K, Cooper A et al. Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease. Bone Marrow Transplant 2007; 39: 207-10.
44. Shapiro EG, Lockman LA, Balthazor M, Krivit W. Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 1995; 18: 413-29.
45. Blaser SI, Clarke JTR, Becker LE. Neuroradiology of lysosomal disorders. Neuroimaging Clin N Am 1994; 4: 283-98.
46. Takahashi Y, Sukegawa K, Aoki M et al. Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidosis by 1H-magnetic resonance spectroscopy before and after bone marrow transplantation. Pediatr Res 2001; 49: 349-55.
47. Malone BN, Whitley CB, Duvall AJ et al. Resolution of obstructive sleep apnea in Hurler syndrome after bone marrow transplantation. Int J Pediatr Otorhinolaryngol 1988; 15: 23-31.
48. Resnick JM, Krivit W, Snover DC et al. Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation. Bone Marrow Transplant 1992; 10: 273-80.
49. Gullingsrud EO, Krivit W, Summers CG. Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Ophthalmology 1998; 105: 1099-105.
50. Braunlin EA, Stauffer NR, Peters C et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2003; 92: 882-6.
51. Braunlin EA, Rose AG, Hopwood JJ et al. Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2001; 88: 1075-7.
52. Odunusi E, Peters C, Krivit W et al. Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention. J Pediatr Orthop 1999; 19: 270-4.
53. Masterson EL, Murphy PG, O'Meara A et al. Hip dysplasia in Hurler's syndrome: orthopaedic management after bone marrow transplantation. J Pediatr Orthop 1996; 16: 731-3.
54. Van Heest AE, House J, Krivit W et al. Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. J Hand Surg Am 1998; 23: 236-43.
55. Khanna G, Van Heest AE, Agel J et al. Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation. Bone Marrow Transplant 2007; 39: 331-4.
56. Hite S, Peters C, Krivit W. Correction of odontoid dysplasia following bone marrow transplantation and engraftment in Hurler syndrome (MPS 1H). Pediatr Radiol 2000; 30: 464-70.
57. Kachur E, Del Maestro R. Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery 2000; 47: 223-8.
58. Navarro C, Dominguez C, Costa M, Ortega JJ. Bone marrow transplant in a case of mucopolysaccharidosis I Scheie phenotype: skin ultrastructure before and after transplantation. Acta Neuropathol 1991; 82: 33-8.
59. Wraith JE, Clarke LA, Beck M et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebocontrolled, multinational study of recombinant human a-L-iduronidase (laronidase). J Pediatr 2004; 144: 581-8.
60. Hershkovitz E, Young E, Rainer J et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis 1999; 22: 50-62.
61. Yamada Y, Kato K, Sukegawa K et al. Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant 1998; 21: 629-34.
62. Imaizumi M, Gushi K, Kurobane I et al. Longterm effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage disorders. Acta Paediatr Jpn 1994; 36: 30-6.
63. Grewal S, Shapiro E, Braunlin E et al. Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report. Bone Marrow Transplant 2003; 32: 957-60.
64. Warkentin PI, Dixon MS, Schafer I, Strandjord SE, Coccia PF. Bone marrow transplantation in Hunter syndrome: a preliminary report. Birth Defects Orig Artic Ser 1986; 22: 31-9.
65. Bergstrom SK, Quinn JJ, Greenstein R, Ascensao J. Long-term follow-up of a patient transplanted for Hunter's disease type IIB. A case report and literature review. Bone Marrow Transplant 1994; 14: 653-8.
66. Coppa GV, Gabrielli O, Zampini L et al. Bone marrow transplantation in Hunter syndrome. J Inherit Metab Dis 1995; 18: 91-2.
67. McKinnis EJ, Sulzbacher S, Rutledge JC, Sanders J, Scott CR. Bone marrow transplantation in Hunter syndrome. J Pediatr 1996; 129: 145-8.
68. Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis 1999; 22: 638-48.
69. Peters C, Krivit W. Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome): an ethical commentary. Bone Marrow Transplant 2000; 25: 1097-9.
70. Klein KA, Krivit W, Whitley CB et al. Poor cognitive outcome of eleven children with Sanfilippo syndrome after bone marrow transplantation and successful engraftment. Bone Marrow Transplant 1995; 15(Suppl 1): S176-81.
71. Vellodi A, Young E, New M, Pot-Mees C, Hugh-Jones K. Bone marrow transplantation for Sanfilippo disease type B. J Inherit Metab Dis 1992; 15: 911-18.
72. Kato S, Kubota C, Yabe H et al. Bone marrow transplantation in Morquio's disease. In: Hobbs JR, editor. Correction of Certain Genetic Diseases by Transplantation. London: COGENT Press; 1989. pp. 120-6.
73. Moser HW, Smith KD, Watkins PA. X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3257-302.
74. Bezman L, Moser AB, Raymond GV et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 2001; 49: 512-17.
75. Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 1994; 94: 516-20.
76. Mosser J, Douar AM, Sarde CO et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993; 361: 726-30.
77. Hudspeth MP, Raymond GV. Immunopathogenesis of adrenoleukodystrophy: current understanding. J Neuroimmunol 2007; 182: 5-12.
78. Berger J, Gartner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta 2006; 1763: 1721-32.
79. Moser HW, Raymond GV, Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease. JAMA 2005; 294: 3131-4.
80. Loes DJ, Hite S, Moser H et al. Adrenoleukodystrophy: a scoring method for brain MR observations. AJNR Am J Neuroradiol 1994; 15: 1761-6.
81. Loes DJ, Stillman AE, Hite S et al. Childhood cerebral form of adrenoleukodystrophy: shortterm effect of bone marrow transplantation on brain MR observations. AJNR Am J Neuroradiol 1994; 15: 1767-71.
82. Melhem ER, Loes DJ, Georgiades CS, Raymond GV, Moser HW. X-linked adrenoleukodystrophy. The role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol 2000; 21: 839-44.
83. Moser HW, Raymond GV, Lu SE et al. Followup of 89 Lorenzo's Oil treated asymptomatic adrenoleukodystrophy patients. Arch Neurol 2005; 62: 1073-80.
84. Moser HW, Tutschka PJ, Brown FR 3rd et al. Bone marrow transplant in adrenoleukodystrophy. Neurology 1984; 34: 1410-17.
85. Shapiro EG, Krivit W, Lockman L et al. Longterm effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 2000; 356: 713-18.
86. Schoenberger S, Roerig P, Schneider DT, Reifenberger G, Göbel U, Gärtner J. Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. Arch Neurol 2007; 64: 651-7.
87. Moser HW, Mahmood A. Adrenoleukodystrophy: new approaches to a neurodegenerative disease. Arch Neurol 2007; 64: 631-2.
88. Beam D, Poe MD, Provenzale JM et al. Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy. Biol Blood Marrow Transplant 2007; 13: 665-74.
89. Martin PL, Carter SL, Kernan NA et al. Results of the cord blood transplantation study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases. Biol Blood Marrow Transplant 2006; 12: 184-94.
90. Peters C, Steward CG; National Marrow Donor Program; International Bone Marrow Transplant Registry; Working Party on Inborn Errors, European Bone Marrow Transplant Group. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003; 31: 229-39.
91. Moser HW, Loes DJ, Melhem ER et al. X-linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics 2000; 31: 227-39.
92. Tolar J, Orchard PJ, Bjoraker KJ, Ziegler RS, Shapiro EG, Charnas L. N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy. Bone Marrow Transplant 2007; 39: 211-15.
93. Warren DJ, Connolly DJ, Wilkinson ID, Sharrard MJ, Griffiths PD. Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy. Dev Med Child Neurol 2007; 49: 135-9.
94. Oz G, Tkac I, Charnas LR et al. Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients. Neurology 2005; 64: 434-41.
95. Mahmood A, Dubey P, Moser HW, Moser A. X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes. Pediatr Transplant 2005; 7: 55-62.
96. Wenger DA, Suzuki K, Suzuki Y, Suzuki K. Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3669-94.
97. Siddiqi ZA, Sanders DB, Massey JM. Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation. Neurology 2006; 67: 268-72.
98. McGraw P, Liang L, Escolar M, Mukundan S, Kurtzberg J, Provenzale JM. Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements -initial experience. Radiology 2005; 236: 221-30.
99. von Figura K, Gieselmann V, Jaeken J. Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3695-724.
100. Krivit W, Shapiro EG, Kennedy W et al. Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. N Engl J Med 1990; 322: 28-32.
101. Dhuna A, Toro C, Torres F, Kennedy WR, Krivit W. Longitudinal neurophysiologic studies in a patient with metachromatic leukodystrophy following bone marrow transplantation. Arch Neurol 1994; 49: 1088-92.
102. Stillman AE, Krivit W, Shapiro EG, Lockman L, Latchaw RE. Serial MR after bone marrow transplantation in two patients with metachromatic leukodystrophy. AJNR Am J Neuroradiol 1994; 15: 1929-32.
103. Shapiro EG, Lipton ME, Krivit W. White matter dysfunction and its neuropsychological correlates: a longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant. J Clin Exp Neuropsychol 1992; 14: 610-24.
104. Pridjian G, Humbert J, Willis J, Shapira E. Presymptomatic late-infantile metachromatic leukodystrophy treated with bone marrow transplantation. J Pediatr 1994; 125: 755-8.
105. Guffon N, Souillet G, Maire I, Dorche C, Mathieu M, Guiband P. Juvenile metachromatic leukodystrophy: neurological outcome 2 years after bone marrow transplantation. J Inher Metab Dis 1995; 18: 159-61.
106. Shapiro EG, Lockman LA, Knopman D, Krivit W. Characteristics of the dementia in late-onset metachromatic leukodystrophy. Neurology 1994; 44: 662-5.
107. Navarro C, Fernandez JM, Dominguez C, Fachal C, Alvarez M. Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation: a 4-year follow-up study. Neurology 1996; 46: 254-6.
108. Kapaun P, Dittmann RW, Granitzny B et al. Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplantation. J Child Neurol 1999; 14: 222-8.
109. Solders G, Celsing G, Hagenfeldt L, Ljungman P, Isberg B, Ringden O. Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy. Bone Marrow Transplant 1998; 22: 1119-22.
110. Koç ON, Day J, Nieder M, Gerson SL, Lazarus HM, Krivit W. Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant 2002; 30: 215-22.
111. Matzner U, Matthes F, Herbst E et al. Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy. Mol Med 2007; 13: 471-9.
112. Matzner U, Herbst E, Hedayati KK et al. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum Mol Genet 2005; 14: 1139-52.
113. Johnson AB, Brenner M. Alexander's disease: clinical, pathologic and genetic features. J Child Neurol 2003; 18: 625-32.
114. Barkovich JA, Messing, A. Alexander disease: not just a leukodystrophy anymore. Neurology 2006; 66: 468-9.
115. Gorospe JR, Naidu S, Johnson AB et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology 2002; 58: 1494-500.
116. Hudson LD. Pelizaeus-Merzbacher disease and the allelic disorder X-linked spastic paraplegia type 2. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 5789-98.
117. van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. Lancet Neurol 2006; 5: 413-23.
118. Gould SJ, Raymond GV, Valle D. The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3181-217.
119. Thomas GH. Disorders of glycoprotein: a-mannosidosis, ß-mannosidosis, fucosidosis, and sialidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3507-34.
120. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw- Hill; 2001. pp. 3635-68.
121. Aula P, Jalanko A, Peltonen L. Aspartylglucosaminuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3535-50.
122. Taylor RM, Farrow BRH, Stewart GJ, Healy PJ. Enzyme replacement in nervous tissue after allogeneic bone-marrow transplantation for fucosidosis in dogs. Lancet 1986; 2: 772-4.
123. Miano M, Lanino E, Gatti R et al. Four-year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation. Bone Marrow Transplant 2001; 27: 747-51.
124. Vellodi A, Cragg H, Winchester B et al. Allogeneic bone marrow transplantation for fucosidosis. Bone Marrow Transplant 1995; 15: 153-8.
125. Ringdén O, Groth CG, Erikson A et al. Longterm follow-up of the first successful bone marrow transplantation in Gaucher disease. Transplantation 1988; 46: 66-70.
126. Peters C, Krivit W. Hematopoietic stem cell transplantation, stem cells, and gene therapy. In: Futerman AH, Zimran A, editors. Gaucher Disease. London: Taylor & Francis; 2007. pp. 423-37.
127. Hobbs JR, Jones KH, Shaw PJ et al. Beneficial effect of pre-transplant splenectomy on displacement bone marrow transplantation for Gaucher's syndrome. Lancet 1987; 1: 1111-15.
128. Young E, Chatterton C, Vellodi A, Winchester B. Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase. J Inherit Metab Dis 1997; 20: 595-602.
129. Yabe H, Yabe M, Hattori K et al. Secondary G-CSF mobilized blood stem cell transplantation without preconditioning in a patient with Gaucher disease: report of a new approach which resulted in complete reversal of severe skeletal involvement. Tokai J Exp Clin Med 2005; 30: 77-82.
130. Jones S, Tumi E, Abdul-Ahad A, Hancock M. Lindsay I, Hobbs JR. DBMT for Gaucher's Disease In: Hobbs JR, editor. Correction of Genetic Diseases by Transplantation (COGENT), 4th edn. London: COGENT Press; 1998. pp. 23-9.
131. Erikson A, Groth CG, Månsson JE et al. Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type. Acta Paediatr Scand 1990; 79: 680-5.
132. Ringdén O, Groth CG, Erikson A et al. Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation 1995; 59: 864-70.
133. Erikson A, Aström M, Månsson JE. Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease. Neuropediatrics 1995; 26: 203-7.
134. Walkley S, Thrall M, Dobrenis K 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 U S A 1994; 91: 2970-4.
135. Will A, Cooper A, Hatton C, Sardharwalla IB, Evans DI, Stevens RF. Bone marrow transplantation in the treatment of a-mannosidosis. Arch Dis Child 1987; 62: 1044-9.
136. Wall DA, Grange DK, Goulding P, Daines M, Luisiri A, Kotagal S. Bone marrow transplantation for the treatment of a-mannosidosis. J Pediatr 1998; 133: 282-5.
137. Grewal SS, Shapiro EG, Krivit W et al. Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr 2004; 144: 569-73.
138. Autti T, Santavuori P, Raininko R et al. Bone marrow transplantation in aspartylglucosaminuria: MRI of brain suggests normalizing myelination. In: Ringdén O, Hobbs JR, Steward C, editors. Correction of Genetic Diseases by Transplantation (COGENT), 4th edn. London: COGENT Press; 1997. p. 92.
139. Autti T, Rapola J, Santavuori P et al. Bone marrow transplantation in aspartylglucosaminuria- histopathological and MRI study. Neuropediatrics 1999; 30: 283-8.
140. Arvio M, Sauna-Aho O, Peippo M. Bone marrow transplantation for aspartylglucosaminuria. Follow-up study of transplanted and non-transplanted patients. J Pediatr 2001; 138: 288-90.
141. Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 2006; 27: 143-9.
142. Desnick RJ, Ioannou YA, Eng CM. a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3827-76.
143. Moser HW, Linke T, Fensom AH, Levade T, Sandhoff K. Acid ceramidase deficiency: Farber lipogranulomatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3827-76.
144. Vormoor J, Ehlert K, Groll AH et al. Successful hematopoietic stem cell transplantation in Farber disease. J Pediatr 2004; 144: 132-4.
145. Gravel RA, Kaback MM, Proia RL, Sandhoff K, Suzuki K, Suzuki K. The GM2 gangliosidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw- Hill; 2001. pp. 3827-76.
146. Suzuki Y, Oshima A, Nanba E. B-galactosidase deficiency (b-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3775-810.
147. Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid a-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3389-420.
148. Hofmann SL, Peltonen L. The neuronal ceroid lipofuscinoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3877-96.
149. Santavuori P, Lauronen L, Kirveskari E et al. Neuronal ceroid lipofuscinoses in childhood. Neurol Sci 2000; 21: S35-41.
150. Deeg HJ, Shulman HM, Albrechtsen D et al. Batten's disease: failure of allogeneic bone marrow transplantation to arrest disease progression in a canine model. Clin Genet 1990; 37: 264-70.
151. Schuchman EH, Desnick RJ, Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3589-610.
152. Bayever E, Kamani N, Ferreira P et al. Bone marrow transplantation for Niemann-Pick type IA disease. J Inherit Metab Dis 1992; 15: 919-28.
153. Vellodi A, Hobbs JR, O'Donnell NM et al. Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation. Br Med J (Clin Res Ed) 1987; 295: 1375-6.
154. Patterson MC, Vanier MT, Suzuki K et al. Niemann-Pick disease type C: a lipid trafficking disorder. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3611-34.
155. Hsu YS, Hwu WL, Huang SF et al. Niemann- Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. Bone Marrow Transplant 1999; 24: 103-7.
156. Assmann G, Seedorf U. Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 3551-72.
157. Krivit W, Peters C, Dusenbery K et al. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant 2000; 26: 567-70.
158. Beaudet AL. Aspartoacylase deficiency (Canavan disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 5799-806.
159. Gahl WA, Thoene JG, Schneider JA. Cystinosis: a disorder of lysosomal membrane transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw- Hill; 2001. pp. 5085-108.
160. Aula P, Gahl WA. Disorders of free sialic acid storage. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001. pp. 5109-20.
161. Hopwood JJ, Ballabio A. Multiple sulfatase defi- ciency and the nature of the sulfatase family. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw- Hill; 2001. pp. 3725-32.
162. Whyte MP, Kurtzberg J, McAlister WH et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 2003; 18: 624-36.
163. Albert MH, Schuster F, Peters C et al. T-celldepleted peripheral blood stem cell transplantation for alpha-mannosidosis. Bone Marrow Transplant 2003; 32: 443-6.
164. Yabe H, Inoue H, Matsumoto M 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.
165. Corti P, Peters C, Balduzzi A et al. Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantation. Br J Haematol 2005; 130: 249-55.
166. Gaipa G, Dassi M, Perseghin P et al. Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases. Bone Marrow Transplant 2003; 31: 857-60.
167. Resnick IB, Abdul Hai A, Shapira MY et al. Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen. Clin Transplant 2005; 19: 840-7.
168. Barton NW, Brady RO, Dambrosia JM et al. Replacement therapy for inherited enzyme defi- ciency -macrophage-targeted glucocerebrosidase for Gaucher disease. N Engl J Med 1991; 324: 1464-70.
169. Schiffmann R, Brady RO. New prospects for the treatment of lysosomal storage diseases. Drugs 2002; 62: 733-42.
170. Kaye EM. Lysosomal storage diseases. Curr Treat Options Neurol 2001; 3: 249-56.
171. Koç ON, Peters C, Aubourg P et al. Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases. Exp Hematol 1999; 27: 1675-81.
172. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-54.