2Locatelli F, Beluffi G, Giorgiani G, Maceario R, Fiori P, Pession A, et al. Transplantation of cord blood progenitor cells can promote bone resorption in autosomal recessive osteopetrosis [ J ]. Bone Marrow Transplant, 1997, 20 ( 8 ) :701-705.
3Tsuji Y, ho S, Isoda T, Kajiwara M, Nagasawa M, Morio T, et al. Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis[ J ]. J Pediatr Hematol Oncol, 2005, 27(9):495-498.
4Driessen GJ, Gerritsen E J, Fischer A, Fasth A, Hop WC, Veys P, et al. Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report [ J ]. Bone Marrow Transplant, 2003, 32(7) :657-663.
5Schula AS, Classen CF, Mihatsch WA, Sigl-Kraetzig M, Wisneth M, Debatin KM, et al. HLA-haploidentical blood progenitor cell transplantation in osteopetrosis[ J ]. Blood, 2002, 99 ( 9 ) : 3458- 3460.
6Jaing TH, Hou JW, Chen SH, Huang IA, Wang CJ, Lee WI. Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis [ J ]. Pediatr Transplant, 2006, 10(5) :629-631.
7Rocha V, Cornish J, Sievers EL, Filipovich A, Locatelli F, Pters C, et al. Comparison of outcomes of unrelated bone marrow and umbilical cord blood transplants in children with acute leukemia [J]. Blood, 2001, 97(10) :2962-4667.
8Martin PL, Carter SL, Kernan NA, Sandev I, Wall D, Pietryga D, et al. Results of the cord blood transplantation study (COBLT): Outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients With lysosomal and pemxisomal storage diseases [ J]. Biol Blood Marrow Transplant, 2006, 12 (2) :184-194.
3Frattini A, Vezzoni P, Villa A. The genetics of domi- nant osteopetrosis. Drug Discovery Today[J]. Disease Mechanisms, 2005, 2 (4): 503-509.
4Ochotny N, Van Vliet A, Chan N, et al. Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V2 ATPase expression and activity[J]. J Biol Chem, 2006, 281 (36)= 26 102-26 111.
5Johansson M, Jansson 1., Ehinger M, et al. Neonatal hematopoietic stem cell transplantation cures oc/oc mice from osteopetrosis[J].Exp Hematol, 2006, 34 (2) : 242-249.
6McMahon C, Will A, Hu P, et al. Bone marrow trans-plantation corrects osteopetrosis in the carbonic anhy- drase lI deficiency syndrome[J]. Blood, 2001, 97(7) : 1 947-1 950.
7Hey PJ, Twells RC, Phillip sMS, et al . Cloning of a novel member of the low density lipoprotein receptor family[J].Gene, 1998,216 (1):103-111.
8Allen RC, Nerad JA, Kattah JC, et al. Resolution of optic nerve edema and improved visual function after optic nerve sheath fenestration in a patient with osteo-petrosis[J]. Am J Ophthalmol, 2006,141 (5) : 945-947.
