XLH Research Citations
We have not attempted to provide a complete collection of research on XLH; instead our goal is to provide a reasonable cross-section. We have provided links to the PubMed pages for these articles, but please review the copyright restrictions that apply to information found there.
Igaki JM, Yamada M, Yamazaki Y, Koto S, Izawa M, Ariyasu D, Suzuki E, Hasegawa H, Hasegawa Y. High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH. Endocr J. 2011 May 19. [Epub ahead of print]
Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011 May 2. doi: 10.1002/jbmr.340. [Epub ahead of print]
Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM. Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment and Relationship to Parathyroid Status. J Clin Endocrinol Metab. 2010 Aug;4.
Yavropoulou MP, Kotsa K, Gotzamani Psarrakou A, Papazisi A, Tranga T, Ventis S, Yovos JG. Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review. Hormones (Athens). 2010 Jul-Sep;9(3):274-8.
Aono Y, Yamazaki Y, Yasutake J, Kawata T, Hasegawa H, Urakawa I, Fujita T, Wada M, Yamashita T, Fukumoto S, Shimada T. Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. J Bone Miner Res. 2009 Nov;24(11):1879-88.
Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. Calcif Tissue Int. 2009 Sep;85(3):235-46.
Farrow EG, White KE. Recent advances in renal phosphate handling. Nat Rev Nephrol. 2010 Apr;6(4):207-17.
Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab. 2010 Apr;95(4):1846-50.
Murthy AS. X-linked hypophosphatemic rickets and craniosynostosis. J Craniofac Surg. 2009 Mar;20(2):439-42.
Raeder H, Shaw N, Netelenbos C, Bjerknes R. A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. Eur J Endocrinol. 2008 Dec;159 Suppl 1:S101-5.
Alon US, Levy-Olomucki R, Moore WV, Stubbs J, Liu S, Quarles LD. Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. Clin J Am Soc Nephrol. 2008 May;3(3):658-64.
Winger L. Living with genetic rickets. Arch Dis Child. 2004 Apr;89(4):390-1.
PMID: 15033857 Article
Jacobson JA, Kalume-Brigido M. Case 97: X-linked hypophosphatemic osteomalacia with insufficiency fracture. Radiology. 2006 Aug;240(2):607-10.
Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH. A genetic study of familial hypophosphatemia and Vitamin D resistant rickets with a review of the literature. Medicine. 1958;37:97-142.
Carpenter, TO. New perspectives on the biology and treatment of X-Linked Hypophosphatemic rickets. Pediatric Clinics of North America. 1997;44(2):443-466.
ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000 Nov;26(3):345-8.
Lam JK, Lam CW, Kung AW, Tan KC, Lau KS, Lam KS. A man with hypophosphataemia. BMJ. 2011 Mar 23;342:d773. doi: 10.1136/bmj.d773.
Shulman DI, Hahn G, Benator R, Washington K, White KE, Farber J, Econs MJ. Tumor-induced rickets: usefulness of MR gradient echo recall imaging for tumor localization. J Pediatr. 2004 Mar;144(3):381-5.
Brame LA, White KE, Econs MJ. Renal phosphate wasting disorders: clinical features and pathogenesis. Semin Nephrol. 2004 Jan;24(1):39-47.
Nesbitt T, Coffman TM, Griffiths R, Drezner MK Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect. J Clin Invest. 1992 May;89(5):1453-9 .
Qiu ZQ, Travers R, Rauch F, Glorieux FH, Scriver CR, Tenenhouse HS. Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice. Bone. 2004 Jan;34(1):134-9.
Lin R, Amizuka N, Sasaki T, Aarts MM, Ozawa H, Goltzan D, Henderson JE, White JH. 1Alpha,25-dihydroxyvitamin D3 promotes vascularization of the chondro-osseous junction by stimulating expression of vascular endothelial growth factor and matrix metalloproteinase 9. J Bone Miner Res. 2002 Sep;17(9):1604-12.
DiMeglio LA, White KE, Econs MJ. Disorders of phosphate metabolism. In Hormones and Disorders of Mineral Metabolism. Endocrinology and Metabolism Clinics of North America. 2000;29:591-609.
Econs MJ. Rickets secondary to phosphate wasting. [Education Article] Diagnostic Endocrinology, Immunology, and Metabolism. 1999;17:175-183.
Nehgme R, Fahey JT, Smith C, Carpenter T. Cardiovascular abnormalities in patients with X-linked hypophosphatemia. J Clin Endocrinol Metab. 1997 Aug;82(8):2450-4.
Eddy MC, McAlister WH, Whyte MP. X-linked hypophosphatemia: normal renal function despite medullary nephrocalcinosis 25 years after transient vitamin D2-induced renal azotemia. Bone. 1997 Dec;21(6):515-20.
Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab. 1997 Feb;82(2):674-81.
Berndt M, Ehrich JH, Lazovic D, Zimmermann J, Hillmann G, Kayser C, Prokop M, Schirg E, Siegert B, et al. Clinical course of hypophosphatemic rickets in 23 adults. Clin Nephrol. 1996 Jan;45(1):33-41.
Whyte MP, Schranck FW, Armamento-Villareal R. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab. 1996 Nov;81(11):4075-80.
Econs MJ, Samsa GP, Monger M, Drezner MK, Feussner JR. X-Linked hypophosphatemic rickets: a disease often unknown to affected patients. Bone Miner. 1994 Jan;24(1):17-24.
Seikaly MG, Browne RH, Baum M. The effect of phosphate supplementation on linear growth in children with X-linked hypophosphatemia. Pediatrics. 1994;94:478-481.
Qiu ZQ, Tenenhouse HS, Scriver CR. Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice. Genet Res. 1993 Aug;62(1):39-43.
Petersen DJ, Boniface AM, Schranck FW, Rupich RC, Whyte MP. X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res. 1992 Jun;7(6):583-97.
Scriver CR, Tenenhouse HS, Glorieux FH. X-Linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. Medicine (Baltimore). 1991 May;70(3):218-228.
Reid IR, Murphy WA, Hardy DC, Teitelbaum SL, Bergfeld MA, Whyte MP. X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. Am J Med. 1991 Jan;90(1):63-9.
Reid IR, Hardy DC, Murphy WA, Teitelbaum SL, Bergfeld MA, Whyte MP. X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. Medicine (Baltimore). 1989 Nov;68(6):336-52.
Hardy DC, Murphy WA, Siegel BA, Reid IR, Whyte MP. X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology. 1989 May;171(2):403-14.
McAlister WH, Kim GS, Whyte MP. Tibial bowing exacerbated by partial premature epiphyseal closure in sex-linked hypophosphatemic rickets. Radiology. 1987 Feb;162(2):461-3.
Baroncelli GI, Bertelloni S, Ceccarelli C, Saggese G. Effect of growth hormone treatment on final height, phosphate metabolism, and bone mineral density in children with X-linked hypophosphatemic rickets. J Pediatr. 2001 Feb;138(2):236-43.
Wilson DM. Growth hormone and hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2000 Sep;13 Suppl 2:993-8.
Cameron FJ, Sochett EB, Daneman A, Kooh SW. A trial of growth hormone therapy in well-controlled hypophosphataemic rickets. Clin Endocrinol (Oxf). 1999 May;50(5):577-82.
Seikaly MG, Brown R, Baum M. The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics. 1997 Nov;100(5):879-84.
Reusz GS, Miltenyi G, Stubnya G, Szabo A, Horvath C, Byrd DJ, Peter F, Tulassay T. X-linked hypophosphatemia: effects of treatment with recombinant human growth hormone. Pediatr Nephrol. 1997 Oct;11(5):573-7.
Patel L, Clayton PE, Brain C, Pelekouda E, Addison GM, Price DA, Mughal MZ. Acute biochemical effects of growth hormone treatment compared with conventional treatment in familial hypophosphataemic rickets. Clin Endocrinol (Oxf). 1996 Jun;44(6):687-96.
Saggese G, Baroncelli GI, Bertelloni S, Perri G. Long-term growth hormone treatment in children with renal hypophosphatemic rickets: effects on growth, mineral metabolism, and bone density. J Pediatr. 1995 Sep;127(3):395-402.
Wilson DM, Lee PD, Morris AH, Reiter EO, Gertner JM, Marcus R, Quarmby VE, Rosenfeld RG. Growth hormone therapy in hypophosphatemic rickets. Am J Dis Child. 1991 Oct;145(10):1165-70.
Kitamura K, Takahashi K, Tamagawa Y, Noguchi Y, Kuroishikawa Y, Ishikawa K, Hagiwara H. Deafness genes. J Med Dent Sci. 2000 Mar;47(1):1-11.
Meisler M. Mutation watch: PEX PLUS? Gene(s) for X-linked hypophosphatemia and deafness. Mamm Genome. 1997 Aug;8(8):543-4.
Boneh A, Reade TM, Scriver CR, Rishikof E. Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse. Am J Med Genet. 1987 Aug;27(4):997-1003.
Meister M, Johnson A, Popelka GR, Kim GS, Whyte MP. Audiologic findings in young patients with hypophosphatemic bone disease. Ann Otol Rhinol Laryngol. 1986 Jul-Aug;95(4 Pt 1):415-20.
Davies M, Kane R, Valentine J. Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia. Ann Intern Med. 1984 Feb;100(2):230-2.
Brookes GB. Vitamin D deficiency--a new cause of cochlear deafness. J Laryngol Otol. 1983 May;97(5):405-20.
Stamp TCB, Baker LRI. Recessive hypophosphataemic rickets, and possible aetiology of the "vitamin D-resistant" syndrome. Arch Dis Child. 1976;51:360-5.
Imel EA, Hui SL, Econs MJ. FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res. 2007 Apr;22(4):520-6.
Yu X, White KE. Fibroblast growth factor 23 and its receptors. Ther Apher Dial. 2005 Aug;9(4):308-12.
Carpenter TO. Variable degrees of 1-alpha hydroxylase activity--fine tuning the rachitic rheostat. J Clin Endocrinol Metab. 2002 Jun;87(6):2421-3.
Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren O, Oba K, Yang IM, Miyauchi A, Econs MJ, Lavigne J, Juppner H. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med. 2003 Apr;24;348(17):1656-63.
Zoidis E, Gosteli-Peter M, Ghirlanda-Keller C, Meinel L, Zapf J, Schmid C. IGF-I and GH stimulate Phex mRNA expression in lungs and bones and 1,25-dihydroxyvitamin D(3) production in hypophysectomized rats. Eur J Endocrinol. 2002 Jan;146(1):97-105.
Christie PT, Harding B, Nesbit MA, Whyte MP, Thakker RV.X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. J Clin Endocrinol Metab. 2001 Aug;86(8):3840-4.
Guo R, Liu S, Spurney RF, Quarles LD. Analysis of recombinant Phex: an endopeptidase in search of a substrate. Am J Physiol Endocrinol Metab. 2001;281:E837-E847.
Sabbagh Y, Boileau G, DesGroseillers L, Tenenhouse HS. Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. Human Molecular Genetics. 2001;10:1539-46.
Boileau G, Tenenhouse HS, DesGroseillers L, Crine P. Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide 107-139 as a substrate and osteocalcin, PPi and phosphate as inhibitors.
Biochem J. 2001;355:707-13.
Li X, Gu W, Masinde G, Hamilton-Ulland M, Rundle CH, Mohan S, Baylink DJ. Genetic variation in bone-regenerative capacity among inbred strains of mice
Drezner MK. PHEX gene and hypophosphatemia. Kidney International. 2000;57:9-18.
Miyamura T, Tanaka H, Inoue M, Ichinose Y, Seino Y. The effects of bone marrow transplantation on X-linked hypophosphatemic mice.. J Bone Miner Res. 2000 Aug;15(8):1451-8.
Econs MJ, Strom TM. The molecular basis of hypophosphatemic rickets. Molecular and Cellular Pediatric Endocrinology, Ed. S. Handwerger. Totowa, NJ: Human Press; 2000:39-55.
Sabbagh Y, Jones AO, Tenenhouse HS. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. Human Mutation. 2000;16:1-6.
Blydt-Hansen TD, Tenenhouse HS, Goodyer P. PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia. Ped Nephrol. 1999;13:607-11.
Filisette D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier J, Rowe PSN, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C. Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur J Human Genetics. 1999;7:615-19.
Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV. Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab. 1998 Oct;83(10):3615-23.
Rowe PSN, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher M, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JLH. Distribution of mutations in the PEX gene in families with X-linked hypophosphatemic rickets (HYP). Human Molecular Genetics. 1997;6:539-49.
Strom TM, Francis F, Lorenz B, Bödrich A, Econs MJ, Lehrach H, Meitinger T. PEX gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Human Molecular Genetics. 1997;6:165-71.
Lajeunesse D, Meyers RA, Hamel L. Direct demonstration of a humorally-mediated inhibition of renal phosphate transport in the Hyp mouse. Kidney International. 1996;50:1531-38.
The HYP consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nature Genetics. 1995;11:130-6.
Eyskens B, Proesmans W, Van Damme B, Lateur L, Bouillon R, Hoogmartens M. Tumour-induced rickets: a case report and review of the literature. Eur J Pediatrics. 1995;154:462-468.
Rowe, Peter SN. Molecular biology of hypophosphatemic rickets and oncogenic osteomalacia. Human Genetics. 1994;94:457-467.
Rasmussen H, Tenenhouse HS. Mendelian hypophosphatemias. 1994: Chapter 124, pp 3717-45.
Brault BA, Meyer MH, Meyer RA Jr, Iorio RJ. Mineral uptake by the femora of older female X-linked hypophosphatemic (HYP) mice but not older male HYP mice. Clin Orthop. 1987 Sep;(222):289-99.
Eicher EM, Southard JL, Scriver CR, Glorieux FH. Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A. 1976 Dec;73(12):4667-71.
Makitie O, Kooh SW, Sochett E. Prolonged high-dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets. Clin Endocrinol (Oxf). 2003 Feb;58(2):163-8.
Alon US, Monzavi R, Lilien M, Rasoulpour M, Geffner ME, Yadin O. Hypertension in hypophosphatemic rickets-role of secondary hyperparathyroidism. Pediatr Nephrol. 2003 Feb;18(2):155-8.
Uri S. Alon and Wayne Moore. Effect of long-term treatment with acid phosphate on the development of nephrocalcinosis in familial hypophosphatemic rickets (XLH). Department of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO. Presented at the 2002 Pediatric Academic Societies' Annual Meeting, May 4-7, 2002, Baltimore, Maryland. Summary.
Seikaly MG, Baum M. Thiazide diuretics arrest the progression of nephrocalcinosis in children with X-linked hypophosphatemia. Pediatrics. 2001 Jul;108(1):E6.
Moltz KC, Friedman AH, Nehgme RA, Kleinman CS, Carpenter TO. Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets. Curr Opin Pediatr. 2001 Aug;13(4):373-5.
Seikaly MG, Quigley R, Baum M. Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia. Pediatr Nephrol. 2000 Nov;15(1-2):57-9.
Ono T, Seino Y. Medical management and complications of X-linked hypophosphatemic vitamin D resistant rickets. Acta Paediatr Jpn. 1997 Aug;39(4):503-7.
Seikaly M, Browne R, Baum M. Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia. Pediatrics. 1996 Jan;97(1):91-3.
Berndt M, Ehrich JH, Lazovic D, Zimmermann J, Hillmann G, Kayser C, Prokop M, Schirg E, Siegert B, Wolff G, Brodehl J. Clinical course of hypophosphatemic rickets in 23 adults. Clin Nephrol. 1996 Jan;45(1):33-41.
Reusz GS. Guide-lines to the treatment of patients with X-linked hypophosphatemic rickets. Acta Biomed Ateneo Parmense. 1995;66(3-4):147-51.
Carpenter TO, Mitnick MA, Ellison A, Smith C, Insogna KL. Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. J Clin Endocrinol Metab. 1994 Jun;78(6):1378-83.
Alon U, Lovell HB, Donaldson DL. Nephrocalcinosis, hyperparathyroidism, and renal failure in familial hypophosphatemic rickets. Clin Pediatr (Phila). 1992 Mar;31(3):180-3.
Rivkees SA, el-Hajj-Fuleihan G, Brown EM, Crawford JD. Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets. J Clin Endocrinol Metab. 1992 Dec;75(6):1514-8.
Baroncelli GI, Angiolini M, Ninni E, Galli V, Saggese R, Giuca MR. Prevalence and pathogenesis of dental and periodontal lesions in children with X-linked hypophosphatemic rickets. Eur J Paediatr Dent. 2006.
Chaussain-Miller C, Sinding C, Wolikow M, Lasfargues JJ, Godeau G, Garabedian M. Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D. J Pediatr. 2003 Mar;142(3):324-31.
Shroff DV, McWhorter AG, Seale NS. Evaluation of aggressive pulp therapy in a population of vitamin D-resistant rickets patients: a follow-up of 4 cases. Pediatr Dent. 2002 Jul-Aug;24(4):347-9.
Murayama T, Iwatsubo R, Akiyama S, Amano A, Morisaki I. Familial hypophosphatemic vitamin D-resistant rickets: dental findings and histologic study of teeth. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000 Sep;90(3):310-6.
Ruchon AF, Marcinkiewicz M, Siegfried G, Tenenhouse HS, DesGroseillers L, Crine P, Boileau G. Pex mRNA is localized in developing mouse osteoblasts and odontoblasts. J Histochem Cytochem. 1998 Apr;46(4):459-68.
Resnick D. Implant placement and guided tissue regeneration in a patient with congenital vitamin D-resistant rickets. J Oral Implantol. 1998;24(4):214-8.
Kawakami M, Takano-Yamamoto T. Orthodontic treatment of a patient with hypophosphatemic vitamin D-resistant rickets. ASDC J Dent Child. 1997 Nov-Dec;64(6):395-9.
Du L, Desbarats M, Viel J, Glorieux FH, Cawthorn C, Ecarot B. Protein cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics. 1996 Aug 15;36(1):22-8.
Hietala EL Larmas MA. Mineral content of different areas of human dentin in hypophosphataemic vitamin D-resistant rickets. J Biol Buccale. 1991 Jun;19(2):129-34.
Seow WK. The effect of medical therapy on dentin formation in vitamin D-resistant rickets. Pediatr Dent. 1991 Mar-Apr.;13(2):97-102.
Larmas M, Hietala EL, Simila S, Pajari U. Oral manifestations of familial hypophosphatemic rickets after phosphate supplement therapy: a review of the literature and report of case. ASDC J Dent Child. 1991 Jul-g;58(4):328-34
McWhorter AG, Seale NS. Prevalence of dental abscess in a population of children with vitamin D-resistant rickets. Pediatr Dent. 1991 Mar-Apr;13(2):91-6.
Fadavi S, Rowold E. Familial hypophosphatemic vitamin D-resistant rickets: review of the literature and report of case. ASDC J Dent Child. 1990 May-Jun;57(3):212-5.
Shields ED, Scriver CR, Reade T, Fuijiwara TM, Morgan K, Ciampi A, Schwartz S. X-linked Hypophosphatemia: The Mutant Gene Is Expressed in Teeth as Well as in Kidney. Am J Hum Genet. 1990;46:434-442.
Abe K, Ooshima T, Lily TS, Yasufuku Y, Sobue S. Structural deformities of deciduous teeth in patients with hypophosphatemic vitamin D-resistant rickets. Oral Surg Oral Med Oral Pathol. 1988 Feb;65(2):191-8.
Schwartz S, Scriver CR, Reade TM, Shields ED. Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: Further evidence that they are different diseases. Oral Surg Oral Med Oral Pathol. 1988;66:310-4.
Breen GH. Prophylactic dental treatment for a patient with vitamin D-resistant rickets: report of case. ASDC J Dent Child. 1986 Jan-Feb;53(1):38-43.
Rakocz M, Keating III J, Johnson R. Management of the primary dentition in vitamin D-resistant rickets. Oral Surgery. 1982;66(3):166-71.
Deformity correction of knee and leg lengthening by Ilizarov method in hypophosphatemic rickets: outcomes and significance of serum phosphate level. J Pediatr Orthop. 2002 Sep-Oct;22(5):626-31.
Stanitski DF. Treatment of deformity secondary to metabolic bone disease with the Ilizarov technique. Clin Orthop. 1994 Apr;(301):38-41.
Tsuchiya H, Uehara K, Abdel-Wanis ME, Sakurakichi K, Kabata T, Tomita K. Deformity correction followed by lengthening with the Ilizarov method. Clin Orthop. 2002 Sep;(402):176-83.
Dudkiewicz I, Schindler A, Ganel A. Elongation of long bones for short stature in patients with hypophosphatemic rickets. Isr Med Assoc J. 2003 Jan;5(1):66-7.
Choi IH, Kim JK, Chung CY, Cho TJ, Lee SH, Suh SW, Whang KS, Park HW, Song KS. Deformity correction of knee and leg lengthening by Ilizarov method in hypophosphatemic rickets: outcomes and significance of serum phosphate level. J Pediatr Orthop. 2002 Sep-Oct;22(5):626-31.
Baroncelli GI, Bertelloni S, Saggese G. Good metabolic control prevents post-surgical imbalance of mineral metabolism in patients with X-linked hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2001 Feb;14(2):223-4.
Post-surgical metabolic imbalance in adolescents with renal hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2000 Jun;13(6):657-8.
Rohmiller MT, Tylkowski C, Kriss VM, Mier RJ. The effect of osteotomy on bowing and height in children with X-linked hypophosphatemia. J Pediatr Orthop. 1999 Jan-Feb;19(1):114-8.
Matsushita T, Nakamura K, Okazaki H, Kurokawa T. A simple technique for correction of complicated tibial deformity including rotational deformity. Arch Orthop Trauma Surg. 1998;117(4-5):259-61.
Kanel JS, Price CT. Unilateral external fixation for corrective osteotomies in patients with hypophosphatemic rickets. J Pediatr Orthop. 1995 Mar-Apr;15(2):232-5.
Eyres KS, Brown J, Douglas DL. Osteotomy and intramedullary nailing for the correction of progressive deformity in vitamin D-resistant hypophosphataemic rickets. J R Coll Surg Edinb. 1993 Feb;38(1):50-4.
Stone MM. Vitamin D-resistant rickets: osteosynthesis with a table staple. Am J Orthop. 1967 Jul;9(7):138-40.
Soehle M, Casey AT. Cervical spinal cord compression attributable to a calcified intervertebral disc in a patient with X-linked hypophosphatemic rickets: case report and review of the literature. Neurosurgery. 2002 Jul;51(1):239-42; discussion 242-3.
Dunlop DJ, Stirling AJ. Thoracic spinal cord compression caused by hypophosphataemic rickets: a case report and review of the world literature. Eur Spine J. 1996;5(4):272-4.
Ballantyne ES, Findlay GF. Thoracic spinal stenosis in two brothers due to vitamin D-resistant rickets. Eur Spine J. 1996;5(2):125-7.
Yamamoto Y, Onofrio BM. Spinal canal stenosis with hypophosphatemic vitamin D-resistant rickets: case report. Neurosurgery. 1994 Sep;35(3):512-4; discussion 514-5.
Matsui H, Katoh Y, Tsuji H. Untreated hypophosphatemic vitamin D-resistant rickets with symptomatic ossification of the ligamentum flavum . J Spinal Disord. 1991 Mar;4(1):110-3.
Bradbury PG, Brenton DP, Stern GM. Neurological involvement in X-linked hypophosphataemic rickets. J Neurol Neurosurg Psychiatry. 1987 Jun;50(6):810-2.
Cartwright DW, Masel JP, Latham SC. The lumbar spinal canal in hypophosphataemic vitamin D-resistant rickets. Aust N Z J Med. 1981 Apr;11(2):154-7.
Cartwright DW, Latham SC, Masel JP, Yelland JD. Spinal canal stenosis in adult with hypophosphataemic vitamin D-resistant rickets. Aust N Z J Med. 1979 Dec;9(6):705-8.
Gardezi SA, Nguyen C, Malloy PJ, Posner GH, Feldman D, Peleg S. A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3). J Biol Chem. 2001 Aug 3;276(31):29148-56.
Thomas O. Carpenter, Marc Keller, Dana Schwartz, Maryann Mitnick, Cynthia Smith, Alice Ellison, Dennis Carey, Florence Comite, Ronald Horst, Rose Travers, Francis H. Glorieux, Caren M. Gundberg, A. Robin Poole and Karl L. Insogna. 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets -- a clinical research center study. J Clin Endocrinol Metab. 1996;81:2381-88.
Caldemeyer KS, Smith RR, Edwards-Brown MK. Familial hypophosphatemic rickets causing ocular calcification and optic canal narrowing. AJNR Am J Neuroradiol. 1995 Jun-Jul;16(6):1252-4.
Kuether TA, Piatt JH. Chiari malformation associated with vitamin D-resistant rickets: case report. Neurosurgery. 1998 May;42(5):1168-71.
Caldemeyer KS, Boaz JC, Wappner RS, Moran CC, Smith RR, Quets JP. Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance. Radiology. 1995 Jun;195(3):733-8.
Khaliq W, Cheripalli P, Tangella K. Tumor-Induced Osteomalacia (TIO): Atypical Presentation. South Med J. 2011 May;104(5):348-50.
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The authors of this web site are not medical professionals, and this information does not substitute for medical care. Information on these pages is based on biomedical research, published in peer-reviewed journals, and international research conferences. Additionally, in some cases anecdotal information is provided by subscribers of the F-HYPDRR group, a mailing list for The XLH Network Inc. A listing of XLH research is available. Please read our full disclaimer.
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