{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:11:11Z","timestamp":1790863871085,"version":"4.1.0"},"reference-count":76,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2003,4,1]],"date-time":"2003-04-01T00:00:00Z","timestamp":1049155200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>An 8-month-old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP), underwent the first trial of bone marrow cell transplantation for this heritable type of rickets. After cytoreduction, she was given T-cell-depleted, haplo-identical marrow from her healthy sister. Chimerism in peripheral blood and bone marrow became 100% donor. Three months later, she was clinically improved, with considerable healing of rickets and generalized skeletal remineralization. However, 6 months post-transplantation, worsening skeletal disease recurred, with partial return of host hematopoiesis. At the age of 21 months, without additional chemotherapy or immunosuppressive treatment, she received a boost of donor marrow cells expanded ex vivo to enrich for stromal cells. Significant, prolonged clinical and radiographic improvement followed soon after. Nevertheless, biochemical features of hypophosphatasia have remained unchanged to date. Skeletal biopsy specimens were not performed. Now, at 6 years of age, she is intelligent and ambulatory but remains small. Among several hypotheses for our patient's survival and progress, the most plausible seems to be the transient and long-term engraftment of sufficient numbers of donor marrow mesenchymal cells, forming functional osteoblasts and perhaps chondrocytes, to ameliorate her skeletal disease.<\/jats:p>","DOI":"10.1359\/jbmr.2003.18.4.624","type":"journal-article","created":{"date-parts":[[2006,4,26]],"date-time":"2006-04-26T23:09:09Z","timestamp":1146092949000},"page":"624-636","source":"Crossref","is-referenced-by-count":148,"title":["Marrow Cell Transplantation for Infantile Hypophosphatasia"],"prefix":"10.1093","volume":"18","author":[{"given":"Michael P","family":"Whyte","sequence":"first","affiliation":[{"name":"Division of Bone and Mineral Diseases, Barnes-Jewish Hospital at Washington University School of Medicine, St. Louis, Missouri, USA"},{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Kurtzberg","sequence":"additional","affiliation":[{"name":"Pediatric Stem Cell Transplant Program, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William H","family":"McALISTER","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Barnes-Jewish Hospital at Washington University School of Medicine, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle N","family":"Podgornik","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen P","family":"Coburn","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Ft. Wayne State Developmental Center, Fort Wayne, Indiana, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence M","family":"Ryan","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy R","family":"Miller","sequence":"additional","affiliation":[{"name":"Pediatric Stem Cell Transplant Program, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary S","family":"Gottesman","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan K","family":"Smith","sequence":"additional","affiliation":[{"name":"Pediatric Stem Cell Transplant Program, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy","family":"Douville","sequence":"additional","affiliation":[{"name":"Pediatric Stem Cell Transplant Program, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Waters-Pick","sequence":"additional","affiliation":[{"name":"Pediatric Stem Cell Transplant Program, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R Douglas","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Pediatric Stem Cell Transplant Program, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul L","family":"Martin","sequence":"additional","affiliation":[{"name":"Pediatric Stem Cell Transplant Program, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,12,2]]},"reference":[{"issue":"Suppl 7","key":"2024013019145458900_bib1","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1034\/j.1399-3046.1999.00063.x","article-title":"Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation","volume":"3","author":"Fasth","year":"1999","journal-title":"Pediatr Transplant"},{"key":"2024013019145458900_bib2","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1093\/hmg\/10.17.1767","article-title":"The mutational spectrum of human malignant autosomal recessive osteopetrosis","volume":"10","author":"Sobacchi","year":"2001","journal-title":"Hum Mol Genet"},{"key":"2024013019145458900_bib3","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1002\/0471221929.ch19","volume-title":"Connective Tissue & Its Heritable Disorders: Molecular, Genetic, and Medical Aspects","author":"Whyte","year":"2002","edition":"2nd ed."},{"key":"2024013019145458900_bib4","first-page":"525","article-title":"Cellular and molecular alterations of osteoblasts in human disorders of bone formation","volume":"14","author":"Marie","year":"1999","journal-title":"Histol Histopathol"},{"key":"2024013019145458900_bib5","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/S1569-2590(08)60130-5","article-title":"Osteoblasts and bone formation","volume":"5B","author":"Marie","year":"1998","journal-title":"Adv Organ Biol"},{"key":"2024013019145458900_bib6","first-page":"51","volume-title":"Principles of Bone Biology","author":"Aubin","year":"2002","edition":"2nd ed."},{"key":"2024013019145458900_bib7","first-page":"39","volume-title":"Principles of Bone Biology","author":"Triffitt","year":"2002","edition":"2nd ed."},{"key":"2024013019145458900_bib8","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1097\/00007890-199704270-00003","article-title":"Bone formation in vivo: Comparison of osteogenesis by transplanted mouse and human marrow stromal fibroblasts","volume":"63","author":"Krebsbach","year":"1997","journal-title":"Transplantation"},{"key":"2024013019145458900_bib9","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/1521-2254(200105\/06)3:3<240::AID-JGM181>3.0.CO;2-A","article-title":"Engineered human mesenchymal stem cells: A novel platform for skeletal cell mediated gene therapy","volume":"3","author":"Turgeman","year":"2001","journal-title":"J Gene Med"},{"key":"2024013019145458900_bib10","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1126\/science.276.5309.71","article-title":"Marrow stromal cells as stem cells for nonhematopoietic tissues","volume":"276","author":"Prockop","year":"1997","journal-title":"Science"},{"key":"2024013019145458900_bib11","doi-asserted-by":"crossref","DOI":"10.56021\/9780801857423","volume-title":"Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders","author":"McKusick","year":"1998","edition":"12th ed."},{"key":"2024013019145458900_bib12","first-page":"1229","volume-title":"Principles of Bone Biology","author":"Whyte","year":"2002","edition":"2nd ed."},{"key":"2024013019145458900_bib13","first-page":"5313","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Whyte","year":"2001","edition":"8th ed."},{"key":"2024013019145458900_bib14","doi-asserted-by":"crossref","first-page":"7666","DOI":"10.1073\/pnas.85.20.7666","article-title":"A missense mutation in the human liver\/bone\/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia","volume":"85","author":"Weiss","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024013019145458900_bib15","doi-asserted-by":"crossref","first-page":"9924","DOI":"10.1073\/pnas.89.20.9924","article-title":"Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia","volume":"89","author":"Henthorn","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024013019145458900_bib16","first-page":"335","volume-title":"The Genetics of Osteoporosis and Metabolic Bone Disease","author":"Whyte","year":"2000"},{"key":"2024013019145458900_bib17","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1006\/mgme.2001.3283","article-title":"Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia","volume":"75","author":"Mumm","year":"2002","journal-title":"Mol Genet Metab"},{"key":"2024013019145458900_bib18","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1038\/sj.ejhg.5200190","article-title":"Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia","volume":"6","author":"Mornet","year":"1998","journal-title":"Eur J Hum Genet"},{"key":"2024013019145458900_bib19","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C","article-title":"Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene","volume":"15","author":"Mornet","year":"2000","journal-title":"Hum Mutat"},{"key":"2024013019145458900_bib20","first-page":"439","article-title":"Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization","volume":"15","author":"Whyte","year":"1994","journal-title":"Endocr Rev"},{"key":"2024013019145458900_bib21","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1172\/JCI113440","article-title":"Perinatal hypophosphatasia: Tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5\u2032-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase","volume":"81","author":"Whyte","year":"1988","journal-title":"J Clin Invest"},{"key":"2024013019145458900_bib22","first-page":"767","article-title":"Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal- 5\u2032-phosphate ectophosphatase: Normal and hypophosphatasia fibroblast study","volume":"47","author":"Fedde","year":"1990","journal-title":"Am J Hum Genet"},{"key":"2024013019145458900_bib23","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1172\/JCI117814","article-title":"Alkaline phosphatase: Placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5\u2032-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy","volume":"95","author":"Whyte","year":"1995","journal-title":"J Clin Invest"},{"key":"2024013019145458900_bib24","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1172\/JCI112031","article-title":"Markedly increased circulating pyridoxal-5\u2032-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism","volume":"76","author":"Whyte","year":"1985","journal-title":"J Clin Invest"},{"key":"2024013019145458900_bib25","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1042\/bj1020053","article-title":"Association of inorganic-pyrophosphatase activity with human alkaline-phosphatase preparations","volume":"102","author":"Moss","year":"1967","journal-title":"Biochem J"},{"key":"2024013019145458900_bib26","doi-asserted-by":"crossref","first-page":"175","DOI":"10.3109\/10408369109106862","article-title":"Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: Clinical and laboratory aspects","volume":"28","author":"Caswell","year":"1991","journal-title":"Crit Rev Clin Lab Sci"},{"key":"2024013019145458900_bib27","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1038\/212901a0","article-title":"Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis","volume":"212","author":"Fleisch","year":"1966","journal-title":"Nature"},{"key":"2024013019145458900_bib28","first-page":"1555","article-title":"Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals","volume":"151","author":"Anderson","year":"1997","journal-title":"Am J Pathol"},{"key":"2024013019145458900_bib29","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1210\/jcem-63-5-1237","article-title":"Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia","volume":"63","author":"Caswell","year":"1986","journal-title":"J Clin Endocrinol Metab"},{"key":"2024013019145458900_bib30","first-page":"2142","article-title":"Hypophosphatasia: Levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity","volume":"81","author":"Whyte","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"2024013019145458900_bib31","first-page":"2587","article-title":"Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia","volume":"81","author":"Fedde","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"2024013019145458900_bib32","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/S0022-3476(82)80061-9","article-title":"Infantile hypophosphatasia: Enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease","volume":"101","author":"Whyte","year":"1982","journal-title":"J Pediatr"},{"key":"2024013019145458900_bib33","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/S0022-3476(84)80079-7","article-title":"Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: Results in three additional patients","volume":"105","author":"Whyte","year":"1984","journal-title":"J Pediatr"},{"key":"2024013019145458900_bib34","first-page":"S1;S155","article-title":"Failure of hyperphosphatasemia by intravenous infusion of purified placental alkaline phosphatase (ALP) to correct severe hypophosphatasia: Evidence against a role for circulating ALP in skeletal mineralization","volume":"7","author":"Whyte","year":"1992","journal-title":"J Bone Miner Res"},{"key":"2024013019145458900_bib35","first-page":"S1;S384","article-title":"Dietary Phosphate restriction therapy for hypophosphatasia: Preliminary observations","volume":"17","author":"Wenkert","year":"2002","journal-title":"J Bone Miner Res"},{"key":"2024013019145458900_bib36","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/S0140-6736(56)90603-1","article-title":"Treatment of hypophosphatasia with cortisone","volume":"1","author":"Fraser","year":"1956","journal-title":"Lancet"},{"key":"2024013019145458900_bib37","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/S0022-3476(97)80029-7","article-title":"Infantile hypophosphatasia: Treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization","volume":"130","author":"Barcia","year":"1997","journal-title":"J Pediatr"},{"key":"2024013019145458900_bib38","first-page":"A15","article-title":"Amelioration of the skeletal disease in hypophosphatasia by bone marrow transplantation using the alkaline phosphatase-knockout mouse model","volume":"59","author":"Fedde","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2024013019145458900_bib39","first-page":"557","article-title":"Ex vivo expansion and subsequent infusion of human bone marrow-derived stromal progenitor cells (mesenchymal progenitor cells): Implications for therapeutic use","volume":"16","author":"Lazarus","year":"1995","journal-title":"Bone Marrow Transplant"},{"key":"2024013019145458900_bib40","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/0003-2697(77)90510-3","article-title":"Analysis of inorganic pyrophosphate at the picomole level","volume":"83","author":"Cheung","year":"1977","journal-title":"Anal Biochem"},{"key":"2024013019145458900_bib41","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/0955-2863(90)90028-J","article-title":"B6 vitamers: Cation exchange HPLC","volume":"1","author":"Mahuren","year":"1991","journal-title":"J Nutr Biochem"},{"key":"2024013019145458900_bib42","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/humu.1154","article-title":"Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia","volume":"18","author":"Taillandier","year":"2001","journal-title":"Hum Mutat"},{"key":"2024013019145458900_bib43","doi-asserted-by":"crossref","first-page":"2313","DOI":"10.1359\/jbmr.2001.16.12.2313","article-title":"Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia","volume":"16","author":"Orimo","year":"2001","journal-title":"J Bone Miner Res"},{"key":"2024013019145458900_bib44","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<171::AID-HUMU16>3.0.CO;2-T","article-title":"Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217","volume":"13","author":"Taillandier","year":"1999","journal-title":"Hum Mutat"},{"key":"2024013019145458900_bib45","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1515\/JPEM.1989.3.2.73","article-title":"Hypophosphatasia: Pediatric forms","volume":"3","author":"Caswell","year":"1989","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2024013019145458900_bib46","doi-asserted-by":"crossref","first-page":"9445","DOI":"10.1073\/pnas.142063399","article-title":"Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization","volume":"99","author":"Hessle","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024013019145458900_bib47","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/0002-9343(82)90474-0","article-title":"Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred","volume":"72","author":"Whyte","year":"1982","journal-title":"Am J Med"},{"key":"2024013019145458900_bib48","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1097\/00005792-197909000-00001","article-title":"Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature","volume":"58","author":"Whyte","year":"1979","journal-title":"Medicine (Baltimore)"},{"key":"2024013019145458900_bib49","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/S0022-3476(86)80773-9","article-title":"Infantile hypophosphatasia: Normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase","volume":"108","author":"Whyte","year":"1986","journal-title":"J Pediatr"},{"key":"2024013019145458900_bib50","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1007\/s198-002-8339-5","article-title":"The role of cytokines in the changes in bone turnover following bone marrow transplantation","volume":"13","author":"Lee","year":"2002","journal-title":"Osteoporos Int"},{"key":"2024013019145458900_bib51","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/0002-9343(57)90124-9","article-title":"Hypophosphatasia","volume":"22","author":"Fraser","year":"1957","journal-title":"Am J Med"},{"key":"2024013019145458900_bib52","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1111\/j.1651-2227.1982.tb09466.x","article-title":"Vitamin D metabolism in hypophosphatasia","volume":"71","author":"Opshaug","year":"1982","journal-title":"Acta Paediatr"},{"key":"2024013019145458900_bib53","author":"Mumm","year":"2003"},{"key":"2024013019145458900_bib54","first-page":"1578","article-title":"17 beta-estradiol prevents osteopenia in the oophorectomized rat treated with cyclosporin-A","volume":"130","author":"Joffe","year":"1992","journal-title":"Endocrinology"},{"key":"2024013019145458900_bib55","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1097\/00002281-199505000-00018","article-title":"Organ transplantation and osteoporosis","volume":"7","author":"Epstein","year":"1995","journal-title":"Curr Opin Rheumatol"},{"key":"2024013019145458900_bib56","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1016\/S0022-3476(79)80317-0","article-title":"Hyperparathyroidism and infantile hypophosphatasia: Effect of prednisone and vitamin K therapy","volume":"95","author":"Wolfish","year":"1979","journal-title":"J Pediatr"},{"key":"2024013019145458900_bib57","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1016\/0003-9969(94)90077-9","article-title":"The effects of dexamethasone and 1, 25-dihydroxyvitamin D3 on osteogenic differentiation of human marrow stromal cells in vitro","volume":"39","author":"Beresford","year":"1994","journal-title":"Arch Oral Biol"},{"key":"2024013019145458900_bib58","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1210\/endo.134.1.8275945","article-title":"Differentiation of human bone marrow osteogenic stromal cells in vitro: Induction of the osteoblast phenotype by dexamethasone","volume":"134","author":"Cheng","year":"1994","journal-title":"Endocrinology"},{"key":"2024013019145458900_bib59","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1111\/j.1651-2227.2000.tb00374.x","article-title":"Infantile hypophosphatasia: Disappointing results of treatment","volume":"89","author":"Deeb","year":"2000","journal-title":"Acta Paediatr"},{"key":"2024013019145458900_bib60","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1023\/A:1005379818426","article-title":"Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy","volume":"21","author":"Iqbal","year":"1998","journal-title":"J Inherit Metab Dis"},{"key":"2024013019145458900_bib61","doi-asserted-by":"crossref","DOI":"10.1007\/978-1-4613-2970-1","volume-title":"Alkaline Phosphatase","author":"McComb","year":"1979"},{"key":"2024013019145458900_bib62","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/0003-9861(88)90305-0","article-title":"Alkaline phosphatase is an ectoenzyme that acts on micromolar concentrations of natural substrates at physiologic pH in human osteosarcoma (SAOS-2) cells","volume":"264","author":"Fedde","year":"1988","journal-title":"Arch Biochem Biophys"},{"key":"2024013019145458900_bib63","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/ng0995-45","article-title":"Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6","volume":"11","author":"Waymire","year":"1995","journal-title":"Nat Genet"},{"key":"2024013019145458900_bib64","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/(SICI)1097-0177(199703)208:3<432::AID-AJA13>3.0.CO;2-1","article-title":"Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia","volume":"208","author":"Narisawa","year":"1997","journal-title":"Dev Dyn"},{"key":"2024013019145458900_bib65","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1359\/jbmr.1999.14.12.2015","article-title":"Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia","volume":"14","author":"Fedde","year":"1999","journal-title":"J Bone Miner Res"},{"key":"2024013019145458900_bib66","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1093\/ajcn\/75.1.57","article-title":"Elevated plasma 4-pyridoxic acid in renal insufficiency","volume":"75","author":"Coburn","year":"2002","journal-title":"Am J Clin Nutr"},{"key":"2024013019145458900_bib67","doi-asserted-by":"crossref","first-page":"4857","DOI":"10.1073\/pnas.92.11.4857","article-title":"Cultured adherent cells from marrow can serve as long-lasting precursor cells for bone, cartilage, and lung in irradiated mice","volume":"92","author":"Pereira","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024013019145458900_bib68","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1073\/pnas.95.3.1142","article-title":"Marrow stromal cells as a source of progenitor cells for nonhematopoietic tissues in transgenic mice with a phenotype of osteogenesis imperfecta","volume":"95","author":"Pereira","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024013019145458900_bib69","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/6529","article-title":"Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta","volume":"5","author":"Horwitz","year":"1999","journal-title":"Nat Med"},{"key":"2024013019145458900_bib70","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1182\/blood.V97.5.1227","article-title":"Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta","volume":"97","author":"Horwitz","year":"2001","journal-title":"Blood"},{"key":"2024013019145458900_bib71","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/8326","article-title":"Osteogenesis imperfecta calls for caution","volume":"5","author":"Marini","year":"1999","journal-title":"Nat Med"},{"key":"2024013019145458900_bib72","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ajmg.1320170206","article-title":"Osteogenesis imperfecta: Update and perspective","volume":"17","author":"Byers","year":"1984","journal-title":"Am J Med Genet"},{"key":"2024013019145458900_bib73","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/8528","article-title":"Osteogenesis imperfecta calls for caution","volume":"5","author":"Bishop","year":"1999","journal-title":"Nat Med"},{"key":"2024013019145458900_bib74","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1136\/bmj.322.7278.63","article-title":"Severe osteogenesis imperfecta: New therapeutic options?","volume":"322","author":"Smith","year":"2001","journal-title":"BMJ"},{"key":"2024013019145458900_bib75","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1053\/bbmt.1999.v5.pm10465099","article-title":"Mixed chimerism: Preclinical studies and clinical applications","volume":"5","author":"McSweeney","year":"1999","journal-title":"Biol Blood Marrow Transplant"},{"key":"2024013019145458900_bib76","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/sj.bmt.1703650","article-title":"Mesenchymal stem cells. Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)","volume":"30","author":"Koc","year":"2002","journal-title":"Bone Marrow Transplant"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1359%2Fjbmr.2003.18.4.624","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/18\/4\/624\/56471101\/5650180405.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/18\/4\/624\/56471101\/5650180405.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T15:06:53Z","timestamp":1710342413000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/18\/4\/624-636\/7592501"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,4,1]]},"references-count":76,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2009,12,2]]},"published-print":{"date-parts":[[2003,4,1]]}},"URL":"https:\/\/doi.org\/10.1359\/jbmr.2003.18.4.624","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2003,4,1]]},"published":{"date-parts":[[2003,4,1]]}}}