Michael Whyte

Summary

Affiliation: Shriners Hospitals for Children
Country: USA

Publications

  1. ncbi request reprint Misinterpretation of osteodensitometry with high bone density: BMD Z > or = + 2.5 is not "normal"
    Michael P Whyte
    Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, MO 63110, USA
    J Clin Densitom 8:1-6. 2005
  2. doi request reprint Resorptive hypercalcemia in post-essential thrombocythemia myelofibrosis: treatment with denosumab
    Nadia Khoury
    Department of Endocrinology and Diabetes, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, Missouri 63110, USA
    J Clin Endocrinol Metab 97:3051-5. 2012
  3. doi request reprint Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
    J Bone Miner Res 27:729-37. 2012
  4. doi request reprint Enzyme-replacement therapy in life-threatening hypophosphatasia
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
    N Engl J Med 366:904-13. 2012
  5. ncbi request reprint Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA
    J Bone Miner Res 22:938-46. 2007
  6. ncbi request reprint Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, 2001 South Lindbergh Boulevard, St Louis, MO 63131, USA
    Ann N Y Acad Sci 1068:143-64. 2006
  7. ncbi request reprint Clinical practice. Paget's disease of bone
    Michael P Whyte
    Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, and the Center for Metabolic Bone Disease and Molecular Research, St Louis, USA
    N Engl J Med 355:593-600. 2006
  8. ncbi request reprint Adult hypophosphatasia treated with teriparatide
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, and Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, MI 63131 3597, USA
    J Clin Endocrinol Metab 92:1203-8. 2007
  9. doi request reprint Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131 3597, USA
    J Bone Miner Res 23:1698-707. 2008
  10. doi request reprint Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia
    Michael P Whyte
    Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, and Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri, USA
    J Bone Miner Res 24:1132-4. 2009

Research Grants

Collaborators

Detail Information

Publications50

  1. ncbi request reprint Misinterpretation of osteodensitometry with high bone density: BMD Z > or = + 2.5 is not "normal"
    Michael P Whyte
    Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, MO 63110, USA
    J Clin Densitom 8:1-6. 2005
    ..Illustrated here, the absence of upper limits for BMD in the WHO criteria jeopardizes recognition of high-BMD disease for all age groups. This oversight requires correction using Z-scores...
  2. doi request reprint Resorptive hypercalcemia in post-essential thrombocythemia myelofibrosis: treatment with denosumab
    Nadia Khoury
    Department of Endocrinology and Diabetes, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, Missouri 63110, USA
    J Clin Endocrinol Metab 97:3051-5. 2012
    ..Hypercalcemia associated with myelofibrosis is rare, and its pathogenesis and treatment are not known...
  3. doi request reprint Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
    J Bone Miner Res 27:729-37. 2012
    ..If the diagnosis of FOP is unclear, ACVR1 mutation analysis is available at certified laboratories...
  4. doi request reprint Enzyme-replacement therapy in life-threatening hypophosphatasia
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
    N Engl J Med 366:904-13. 2012
    ..There is no approved medical therapy. ENB-0040 is a bone-targeted, recombinant human TNSALP that prevents the manifestations of hypophosphatasia in Tnsalp knockout mice...
  5. ncbi request reprint Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA
    J Bone Miner Res 22:938-46. 2007
    ..Elevated circulating levels of immunoreactive OPG and soluble RANKL accompany this genetic defect that truncates the OPG monomer, preventing formation of OPG homodimers...
  6. ncbi request reprint Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, 2001 South Lindbergh Boulevard, St Louis, MO 63131, USA
    Ann N Y Acad Sci 1068:143-64. 2006
    ..Biochemical markers indicate rapid skeletal remodeling. In FEO, osteolysis progresses to fat-filled bone rather than to osteosclerosis. Antiresorptive therapy with bisphosphonates can be effective for each disorder...
  7. ncbi request reprint Clinical practice. Paget's disease of bone
    Michael P Whyte
    Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, and the Center for Metabolic Bone Disease and Molecular Research, St Louis, USA
    N Engl J Med 355:593-600. 2006
  8. ncbi request reprint Adult hypophosphatasia treated with teriparatide
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, and Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, MI 63131 3597, USA
    J Clin Endocrinol Metab 92:1203-8. 2007
    ..Affected adults manifest osteomalacia, often with slowly healing metatarsal stress fractures (MTSFs) and proximal femur pseudofractures. Pharmacotherapy remains elusive...
  9. doi request reprint Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131 3597, USA
    J Bone Miner Res 23:1698-707. 2008
    ..In conclusion, bisphosphonate toxicity during childhood can impair skeletal modeling and remodeling with structural changes that evolve and carry into adult life...
  10. doi request reprint Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia
    Michael P Whyte
    Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, and Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri, USA
    J Bone Miner Res 24:1132-4. 2009
    ....
  11. doi request reprint Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131 3597, USA
    J Bone Miner Res 24:1493-505. 2009
    ..HPP should be considered when CRMO is a diagnostic possibility. Metaphyseal radiographic changes and marrow edema associated with periarticular bone pain and soft tissue swelling suggestive of osteomyelitis can complicate childhood HPP...
  12. doi request reprint Physiological role of alkaline phosphatase explored in hypophosphatasia
    Michael P Whyte
    Shriners Hospital for Children, St Louis, Missouri, USA
    Ann N Y Acad Sci 1192:190-200. 2010
    ..Trials of alkaline phosphatase replacement therapy for HPP suggest that TNSALP functions at the level of skeletal tissues...
  13. pmc Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
    J Bone Miner Res 25:2527-39. 2010
    ..Genomic copy-number microarray was unrevealing. Hence, DSS is a distinctive OPT of unknown etiology featuring osteoclast deficiency during early childhood. How osteopenia follows is an enigma of human skeletal pathobiology...
  14. pmc Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
    J Bone Miner Res 26:920-33. 2011
    ..0%) we tested randomly among individuals without CED. Perhaps the unique phenotype of this CED family is conditioned by altered RANKL activity...
  15. ncbi request reprint Skeletal fluorosis and instant tea
    Michael P Whyte
    Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, 660 South Euclid, Box 8301, St Louis, Missouri 63110, USA
    Am J Med 118:78-82. 2005
  16. ncbi request reprint Heritable disorders of the RANKL/OPG/RANK signaling pathway
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis 63131, USA
    J Musculoskelet Neuronal Interact 4:254-67. 2004
    ..These disorders resemble PDB which can be inherited as an autosomal dominant trait with focal osteolytic disease, sometimes with deafness and tooth loss, and increasingly associated with mutations, but in other genes...
  17. ncbi request reprint Bisphosphonate-induced osteopetrosis
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, MO 63131 3597, USA
    N Engl J Med 349:457-63. 2003
  18. ncbi request reprint Marrow cell transplantation for infantile hypophosphatasia
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131 3597, USA
    J Bone Miner Res 18:624-36. 2003
    ....
  19. doi request reprint Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131 3597, USA
    J Bone Miner Res 25:2515-26. 2010
    ..Hence, high serum levels of several enzymes characterize A-SD. Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency...
  20. ncbi request reprint Osteoprotegerin deficiency and juvenile Paget's disease
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, MO 63131, USA
    N Engl J Med 347:175-84. 2002
    ..Osteoprotegerin deficiency could explain juvenile Paget's disease because osteoprotegerin suppresses bone turnover by functioning as a decoy receptor for osteoclast differentiation factor (also called RANK ligand)...
  21. ncbi request reprint Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA
    Medicine (Baltimore) 81:101-21. 2002
  22. ncbi request reprint Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA
    J Bone Miner Res 17:26-9. 2002
    ..Hence, ESH and FEO are allelic diseases and ESH, like FEO, probably reflects increased activity in the skeleton of the RANK target, nuclear factor-kappaB (NF-kappaB)...
  23. ncbi request reprint Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, Missouri 63131, USA
    J Pediatr 148:753-8. 2006
    ....
  24. ncbi request reprint Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia
    Steven Mumm
    Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital Research Institute, St Louis, Missouri 63110, USA
    Mol Genet Metab 75:143-53. 2002
    ....
  25. ncbi request reprint Longitudinal evolution of bone mineral density and bone markers in human immunodeficiency virus-infected individuals
    Kristin Mondy
    Division of Infectious Diseases, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63108, USA
    Clin Infect Dis 36:482-90. 2003
    ..Traditional risk factors and advanced HIV infection play a more significant pathogenic role in the development of osteopenia and osteoporosis associated with HIV infection than do treatment-associated factors...
  26. doi request reprint Skeletal fluorosis from instant tea
    Michael P Whyte
    Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, Missouri, USA
    J Bone Miner Res 23:759-69. 2008
    ..e., >4 mg/liter). Black and green teas can contain significant amounts of F(-). In 2005, SF caused by drinking 1-2 gallons of double-strength instant tea daily throughout adult life was reported in a 52-yr-old woman...
  27. ncbi request reprint Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts
    Richard A Cahill
    Pediatric Research Institute, Cardinal Glennon Children s Hospitals, St Louis, Missouri 63110, USA
    J Clin Endocrinol Metab 92:2923-30. 2007
    ..There is no established medical treatment. In 1997, an 8-month-old girl with worsening and life-threatening infantile HPP improved considerably after marrow cell transplantation...
  28. ncbi request reprint Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy
    Deborah Wenkert
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, MO, USA
    Clin Orthop Relat Res 462:80-6. 2007
    ..The genetic bases of idiopathic multicentric osteolysis disorders remain unknown...
  29. doi request reprint Skeletal fluorosis from brewed tea
    Kenneth Izuora
    Division of Endocrinology, Department of Medicine, Emory University, School of Medicine, Atlanta, Georgia 3032, USA
    J Clin Endocrinol Metab 96:2318-24. 2011
    ..Beginning in 2005, we showed that daily consumption of 1-2 gallons of instant tea made from this plant can lead to SF...
  30. ncbi request reprint Congenital blindness and osteoporosis-pseudoglioma syndrome
    Dave H Lee
    St Louis University Eye Institute, St Louis, MO 63104, USA
    J AAPOS 7:75-7. 2003
    ..OPPG is usually not suspected until fractures occur, frequently after seemingly minor trauma. We report the ophthalmic findings of an infant girl with OPPG...
  31. pmc Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, 2C412 SOM, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    J Clin Endocrinol Metab 93:3443-8. 2008
    ..Patient age when skeletal problems first manifest generally predicts the clinical course, with perinatal HPP causing bone disease in utero with postnatal lethality...
  32. ncbi request reprint Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
    Eileen M Shore
    Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia 19104 6018, USA
    N Engl J Med 346:99-106. 2002
    ..AHO is caused by heterozygous inactivating mutations in the GNAS1 gene that result in decreased expression or function of the alpha subunit of the stimulatory G protein (Gsalpha) of adenylyl cyclase...
  33. ncbi request reprint Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene
    Sara Baumgartner-Sigl
    Department of Pediatrics, Medical University Innsbruck, Austria
    Bone 40:1655-61. 2007
    ..We recommend that assessment of any neonate with PRS should include measurement of serum ALP activity...
  34. ncbi request reprint Fluoride levels in bottled teas
    Michael P Whyte
    Am J Med 119:189-90. 2006
  35. ncbi request reprint The long and the short of bone therapy
    Michael P Whyte
    N Engl J Med 354:860-3. 2006
  36. ncbi request reprint High-bone-mass disease and LRP5
    Michael P Whyte
    N Engl J Med 350:2096-9; author reply 2096-9. 2004
  37. ncbi request reprint Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy
    Sarju G Mehta
    Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 140:322-30. 2006
    ..Elucidation of the novel molecular basis of this disorder may provide valuable links between bone, collagen and muscle, and targeted therapeutic options...
  38. ncbi request reprint Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood
    Hasnain M Khandwala
    Division of Endocrinology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
    Endocr Pract 12:676-81. 2006
    ..To describe an elderly patient with low serum alkaline phosphatase (ALP) activity detected after a pathologic fracture and to characterize hypophosphatasia in adult patients...
  39. ncbi request reprint Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation
    Michael R Rickels
    Division of Endocrinology, Diabetes and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Bone Miner Res 20:878-85. 2005
    ..A 59-year-old woman carrying a novel LRP5 missense mutation, Arg154Met, manifested skeletal disease affecting her oropharynx as well as dense bones, showing that exuberant LRP5 effects are not always benign...
  40. pmc An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
    Michael R Bowl
    Academic Endocrine Unit, Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Oxford, United Kingdom
    J Clin Invest 115:2822-31. 2005
    ..5 and 15.5 days post coitum. Thus, our results indicate a likely new role for SOX3 in the embryonic development of the parathyroid glands...
  41. ncbi request reprint Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin
    Myra H Wyckoff
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Clin Endocrinol Metab 90:1233-40. 2005
    ....
  42. ncbi request reprint Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome
    Giles D J Watts
    Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 10, Boston, MA, 02115, USA
    Hum Genet 118:508-14. 2005
    ..This region also localizes diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH). Identification of the disease gene will be necessary to understand the pathogenesis of this complex disorder...
  43. ncbi request reprint X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase
    M Andrew Nesbit
    Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
    Genomics 84:1060-70. 2004
    ..Analyses of ATP11C, MCF2, SOX3, and U7snRNA in HPT patients did not reveal mutations, implicating regulatory changes or mutation of an as yet unidentified gene in the etiology of X-linked hypoparathyroidism...
  44. ncbi request reprint Elevated plasma 4-pyridoxic acid in renal insufficiency
    Stephen P Coburn
    Department of Biochemistry, Fort Wayne State Developmental Center, Fort Wayne, IN 46835, USA
    Am J Clin Nutr 75:57-64. 2002
    ..Renal insufficiency is associated with altered vitamin B-6 metabolism. We have observed high concentrations of 4-pyridoxic acid, the major catabolite of vitamin B-6 metabolism, in plasma during renal insufficiency...
  45. pmc MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)
    Ann M Kennedy
    Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Oxford, United Kingdom
    J Clin Invest 115:2832-42. 2005
    ..Thus, the F56S mutation results in deficiency of MMP13, which leads to the human skeletal developmental anomaly of SEMD(MO)...
  46. ncbi request reprint Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    Giles D J Watts
    Division of Genetics, Children s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 36:377-81. 2004
    ..Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway...
  47. ncbi request reprint Recovery from skeletal fluorosis (an enigmatic, American case)
    Etah S Kurland
    Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA
    J Bone Miner Res 22:163-70. 2007
    ..Nearly a decade of detailed follow-up documented considerable correction of the disorder after removal of the putative source of fluoride (toothpaste)...
  48. pmc Enzyme replacement therapy for murine hypophosphatasia
    Jose Luis Millan
    Burnham Institute for Medical Research, La Jolla, California 92037, USA
    J Bone Miner Res 23:777-87. 2008
    ..Babies with the infantile form of HPP often die with severe rickets and sometimes hypercalcemia and vitamin B6-dependent seizures. There is no established medical treatment...
  49. ncbi request reprint Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects
    Suat Simsek
    Department of Endocrinology Diabetes Center, VU University Medical Center, P O Box 7057, Boelelaan 1117, 1007 MB Amsterdam, The Netherlands
    J Clin Endocrinol Metab 92:1897-901. 2007
    ....
  50. pmc Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
    Virginia E Kimonis
    Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Am J Med Genet A 146:745-57. 2008
    ..The presence of PDB in 28 (57%) individuals suggests that measuring serum alkaline phosphatase (ALP) activity may be a useful screen for IBMPFD in patients with myopathy...

Research Grants4

  1. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2002
    ....