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.


Growth Hormone

Hearing Loss

Molecular Biology

Side Effects of Treatment

Dental Issues



Spinal Cord Complications

Alternative Treatments

Eye Problems


Related Disorders


Most Recently

Econs MJ.  Conventional Therapy in Adults With XLH Improves Dental Manifestations, But Not Enthesopathy. J Clin Endocrinol Metab. 2015 Oct;100(10):3622-4. doi: 10.1210/jc.2015-3229. No abstract available.
PMID: 26439151

Connor J, Olear EA, Insogna KL, Katz L, Baker S, Kaur R, Simpson CA, Sterpka J, Dubrow R, Zhang JH, Carpenter TO.  Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease.  J Clin Endocrinol Metab. 2015 Oct;100(10):3625-32. doi: 10.1210/JC.2015-2199. Epub 2015 Jul 15.
PMID: 26176801

Alison Skrinar, PhD, Ayla Marshall, Javier San Martin, MD, and Melita Dvorak-Ewell, PhD.  X-Linked Hypophosphatemia (XLH) Impairs Skeletal Health Outcomes and Physical Function in Affected Adults. ENDO 2015.  Click here for presented results.

Agnes Linglart, MD, PhD , Melita Dvorak-Ewell, PhD , Ayla Marshall , Javier San Martin, MD , and Alison Skrinar, PhD.  Impaired Mobility and Pain Significantly Impact the Quality of Life of Children with X-Linked Hypophosphatemia (XLH).  ICCBH 2015.  Click here for presented results.

Linglart A1, Biosse-Duplan M, Briot K, Chaussain C, Esterle L, Guillaume-Czitrom S, Kamenicky P, Nevoux J, Prié D, Rothenbuhler A, Wicart P, Harvengt P. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014 Mar 14;3(1):R13-30. doi: 10.1530/EC-13-0103. Print 2014.
PMID: 24550322   or click here for free access at Endocrine Connections

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]
PMID: 21597229

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]
PMID: 21538511

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.
PMID: 20685863 

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.
PMID: 20688626

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.
PMID: 19419316

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.
PMID: 19609735

Farrow EG, White KE. Recent advances in renal phosphate handling. Nat Rev Nephrol. 2010 Apr;6(4):207-17.
PMID: 20177401

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.
PMID: 20157195

Murthy AS. X-linked hypophosphatemic rickets and craniosynostosis. J Craniofac Surg. 2009 Mar;20(2):439-42.
PMID: 19242361

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.
PMID: 18775977

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.
PMID: 18256372

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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.
PMID: 16864683

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.
PMID: 13565132 

Carpenter, TO. New perspectives on the biology and treatment of X-Linked Hypophosphatemic rickets. Pediatric Clinics of North America. 1997;44(2):443-466.
PMID: 9130929

ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000 Nov;26(3):345-8.
PMID: 11062477

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.
PMID: 21436116

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.
PMID: 15001949

Brame LA, White KE, Econs MJ. Renal phosphate wasting disorders: clinical features and pathogenesis. Semin Nephrol. 2004 Jan;24(1):39-47.
PMID: 14730508

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 .
PMID: 1569185

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.
PMID: 14751570

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.
PMID: 12211430

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.
PMID: 9253316

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.
PMID: 9430241

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.
PMID: 9024275

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.
PMID: 8616955

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.
PMID: 8923863

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.
PMID: 8186731

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.
PMID: 7936855

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.
PMID: 8405991

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.
PMID: 1414477

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.
PMID: 1851532

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.
PMID: 1986592

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.
PMID: 2811660

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.
PMID: 2539609

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.
PMID: 3025921

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Growth Hormone


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.
PMID: 11174622

Wilson DM. Growth hormone and hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2000 Sep;13 Suppl 2:993-8.
PMID: 11086653

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.
PMID: 10468922

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.
PMID: 9346990

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.
PMID: 9323282

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.
PMID: 8759181

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.
PMID: 7658269

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.
PMID: 1928011

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Hearing Loss


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.
PMID: 12162522

Meisler M. Mutation watch: PEX PLUS? Gene(s) for X-linked hypophosphatemia and deafness. Mamm Genome.  1997 Aug;8(8):543-4.
PMID: 9250856

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.
PMID: 3425609

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.
PMID: 3740719

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.
PMID: 6691666

Brookes GB. Vitamin D deficiency--a new cause of cochlear deafness. J Laryngol Otol. 1983 May;97(5):405-20.
PMID: 6602194

Stamp TCB, Baker LRI. Recessive hypophosphataemic rickets, and possible aetiology of the "vitamin D-resistant" syndrome. Arch Dis Child. 1976;51:360-5.
PMID: 180907

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Molecular Biology


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.
PMID: 17227222

Yu X, White KE. Fibroblast growth factor 23 and its receptors. Ther Apher Dial. 2005 Aug;9(4):308-12.
PMID: 16076372

Carpenter TO.  Variable degrees of 1-alpha hydroxylase activity--fine tuning the rachitic rheostat. J Clin Endocrinol Metab. 2002 Jun;87(6):2421-3.
PMID: 12050192

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.
PMID: 12711740

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.
PMID: 11751074

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.
PMID: 11502821

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.
PMID: 11551862

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.
PMID: 11468271

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.
PMID: 11311133

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 
Bone. 2001;29:134-140.
PMID: 11502474

Drezner MK. PHEX gene and hypophosphatemia. Kidney International. 2000;57:9-18.
PMID: 10620182

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.
PMID: 10934643

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.
PMID: 10874297

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.
PMID: 10460513

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.
PMID: 10439971

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.
PMID: 9768674

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.
PMID: 9097956

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.
PMID: 9063736

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.
PMID: 8914019

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.
PMID: 7550339

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.
PMID:  7671944

Rowe, Peter SN. Molecular biology of hypophosphatemic rickets and oncogenic osteomalacia. Human Genetics. 1994;94:457-467.
PMID:  7959677

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.
PMID: 3040311

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.
PMID: 188049

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Side Effects of Medication


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.
PMID: 12580931

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.
PMID: 12579406

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.
PMID: 11433085

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.
PMID: 11717565

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.
PMID: 11095012

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.
PMID: 9316301

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.
PMID: 8545232

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.
PMID: 8616955

Reusz GS. Guide-lines to the treatment of patients with X-linked hypophosphatemic rickets. Acta Biomed Ateneo Parmense. 1995;66(3-4):147-51.
PMID: 8578931

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.
PMID: 8200940

Alon U, Lovell HB, Donaldson DL. Nephrocalcinosis, hyperparathyroidism, and renal failure in familial hypophosphatemic rickets. Clin Pediatr (Phila). 1992 Mar;31(3):180-3.
PMID: 1547591

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.
PMID: 1464657

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Dental Issues

McKee MD, Hoac B, Addison WN, Barros NM, Millán JL, Chaussain C.  Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia.  Periodontol 2000. 2013 Oct;63(1):102-22.
PMID: 23931057

Salmon B1, Bardet C, Khaddam M, Naji J, Coyac BR, Baroukh B, Letourneur F, Lesieur J, Decup F, Le Denmat D, Nicoletti A, Poliard A, Rowe PS, Huet E, Vital SO, Linglart A, McKee MD, Chaussain C.  MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia.  PLoS One. 2013;8(2):e56749. doi: 10.1371/journal.pone.0056749. Epub 2013 Feb 22.
PMID: 2345107

Foster BL, Ramnitz MS, Gafni RI, Burke AB, Boyce AM, Lee JS, Wright JT, Akintoye SO, Somerman MJ, Collins MT.  Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations. J Dent Res. 2014 Apr 3;93(7 suppl):7S-19S.
PMID: 24700690

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.
PMID: 16842025

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.
PMID: 12640383

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.
PMID: 12212880

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.
PMID: 10982952

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.
PMID: 9524191

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.
PMID: 10321209

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.
PMID: 9466008

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.
PMID: 8812412

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.
PMID: 1657902

Seow WK. The effect of medical therapy on dentin formation in vitamin D-resistant rickets. Pediatr Dent. 1991 Mar-Apr.;13(2):97-102.
PMID: 1652747

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
PMID: 1658098

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.
PMID: 1652746

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.
PMID: 2161025

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.
PMID: 90178076

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.
PMID: 2830573

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.
PMID: 2845325

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.
PMID: 3003172

Rakocz M, Keating III J, Johnson R. Management of the primary dentition in vitamin D-resistant rickets. Oral Surgery. 1982;66(3):166-71.
PMID: 83013944

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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.
PMID: 12198465

Stanitski DF. Treatment of deformity secondary to metabolic bone disease with the Ilizarov technique. Clin Orthop. 1994 Apr;(301):38-41.
PMID: 8156693

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.
PMID: 12218482

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Sharkey, Melinda S. MD; Grunseich, Karl BA; Carpenter, Thomas O. MD. Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets  Journal of the American Academy of Orthopaedic Surgeons: July 2015 - Volume 23 - Issue 7 - p 433–442
doi: 10.5435/JAAOS-D-14-00082

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.
PMID: 12592966

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.
PMID: 12198465

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.
PMID: 11305803

Post-surgical metabolic imbalance in adolescents with renal hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2000 Jun;13(6):657-8.
PMID: 10905391

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.
PMID: 9890299

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.
PMID: 9581256

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.
PMID: 7745100

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.
PMID: 8382289

Stone MM. Vitamin D-resistant rickets: osteosynthesis with a table staple. Am J Orthop. 1967 Jul;9(7):138-40.
PMID: 6041792  

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Spinal Cord Complications


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.
PMID: 12182425

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.
PMID: 8886741

Ballantyne ES, Findlay GF. Thoracic spinal stenosis in two brothers due to vitamin D-resistant rickets. Eur Spine J. 1996;5(2):125-7. 
PMID: 8724193

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.
PMID: 7800144

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.
PMID: 1666964

Bradbury PG, Brenton DP, Stern GM. Neurological involvement in X-linked hypophosphataemic rickets. J Neurol Neurosurg Psychiatry. 1987 Jun;50(6):810-2.
PMID: 3039061

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.
PMID: 6268034

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.
PMID: 231427

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Alternative Treatments


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.
PMID: 11369766

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.
PMID: 8964881

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Eye Problems


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.
PMID: 7677018

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Kuether TA, Piatt JH. Chiari malformation associated with vitamin D-resistant rickets: case report. Neurosurgery. 1998 May;42(5):1168-71.
PMID: 9588565

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.
PMID: 7754003

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Related Disorders


Khaliq W, Cheripalli P, Tangella K. Tumor-Induced Osteomalacia (TIO): Atypical Presentation. South Med J. 2011 May;104(5):348-50.
PMID: 21606715

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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 to a mailing list and/or members of a forum for The XLH Network Inc. A listing of XLH research is available. Please read our full disclaimer

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