Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

[1]  C. Sloby.  mineralization , 2020, Catalysis from A to Z.

[2]  C. Adamsbaum,et al.  High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X‐Linked Hypophosphatemic Rickets (XLHR) , 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[3]  G. Ariceta,et al.  A randomized, double-blind, placebo-controlled study to assess the efficacy and safety of cinacalcet in pediatric patients with chronic kidney disease and secondary hyperparathyroidism receiving dialysis , 2018, Pediatric Nephrology.

[4]  D. Haffner,et al.  FGF23 blockade coming to clinical practice. , 2018, Kidney international.

[5]  M. Collins.  Burosumab: At Long Last, an Effective Treatment for FGF23‐Associated Hypophosphatemia , 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[6]  J. S. San Martin,et al.  A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis , 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[7]  J. S. San Martin,et al.  Burosumab Therapy in Children with X‐Linked Hypophosphatemia , 2018, The New England journal of medicine.

[8]  M. Oddy,et al.  Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations , 2018, Journal of Inherited Metabolic Disease.

[9]  S. Wientroub,et al.  Guided growth: preliminary results of a multinational study of 967 physes in 537 patients , 2018, Journal of children's orthopaedics.

[10]  S. Bölte,et al.  An international qualitative study of functioning in autism spectrum disorder using the World Health Organization international classification of functioning, disability and health framework , 2017, Autism research : official journal of the International Society for Autism Research.

[11]  D. Haffner,et al.  Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets , 2018, Pediatric Nephrology.

[12]  T. Huisman,et al.  Does the Addition of a “Black Bone” Sequence to a Fast Multisequence Trauma MR Protocol Allow MRI to Replace CT after Traumatic Brain Injury in Children? , 2017, American Journal of Neuroradiology.

[13]  G. Schwartz,et al.  Measurement and Estimation of Glomerular Filtration Rate in Children. , 2017, Advances in chronic kidney disease.

[14]  M. Mohammadi,et al.  Therapeutic Effects of FGF23 c‐tail Fc in a Murine Preclinical Model of X‐Linked Hypophosphatemia Via the Selective Modulation of Phosphate Reabsorption , 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[15]  J. Salles,et al.  Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR). , 2017, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

[16]  P. Wicart,et al.  Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR) , 2017, Endocrine connections.

[17]  S. Daniels,et al.  Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents , 2017, Pediatrics.

[18]  P. Chanson,et al.  Evaluation of a New Fully Automated Assay for Plasma Intact FGF23 , 2017, Calcified Tissue International.

[19]  D. Eastwood,et al.  The orthopaedic management of lower limb deformity in hypophosphataemic rickets , 2017, Journal of children's orthopaedics.

[20]  A. Edefonti,et al.  Clinical practice recommendations for treatment with active vitamin D analogues in children with chronic kidney disease Stages 2-5 and on dialysis. , 2017, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[21]  M. Zou,et al.  Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets , 2017, Clinical endocrinology.

[22]  C. Adamsbaum,et al.  Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity , 2017, Hormone Research in Paediatrics.

[23]  Y. Takashi,et al.  Patients with FGF23-related hypophosphatemic rickets/osteomalacia do not present with left ventricular hypertrophy , 2017, Endocrine research.

[24]  K. Briot,et al.  Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia , 2017, Journal of dental research.

[25]  Y. Hasegawa,et al.  Hypertension is a characteristic complication of X-linked hypophosphatemia. , 2017, Endocrine journal.

[26]  F. Santos,et al.  X-linked hypophosphatemia and growth , 2017, Reviews in Endocrine and Metabolic Disorders.

[27]  F. Song,et al.  A Reporting Tool for Practice Guidelines in Health Care: The RIGHT Statement. , 2017, Annals of internal medicine.

[28]  F. Glorieux,et al.  Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia , 2016, Bone reports.

[29]  I. Kjaer,et al.  A radiological study on intra- and extra-cranial calcifications in adults with X-linked hypophosphatemia and associations with other mineralizing enthesopathies and childhood medical treatment. , 2016, Orthodontics & craniofacial research.

[30]  J. Marier,et al.  Population pharmacokinetic and pharmacodynamic analyses from a 4‐month intradose escalation and its subsequent 12‐month dose titration studies for a human monoclonal anti‐FGF23 antibody (KRN23) in adults with X‐linked hypophosphatemia , 2016, Journal of clinical pharmacology.

[31]  C. Roux,et al.  Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. , 2016, European journal of endocrinology.

[32]  Elias Melhem,et al.  EOS® biplanar X-ray imaging: concept, developments, benefits, and limitations , 2016, Journal of children's orthopaedics.

[33]  J. Collins,et al.  Hypophosphatemic rickets and craniosynostosis: a multicenter case series. , 2016, Journal of neurosurgery. Pediatrics.

[34]  M. Nothnagel,et al.  Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing , 2016, PloS one.

[35]  F. Glorieux,et al.  Pharmacokinetics and pharmacodynamics of a human monoclonal anti‐FGF23 antibody (KRN23) in the first multiple ascending‐dose trial treating adults with X‐linked hypophosphatemia , 2015, Journal of clinical pharmacology.

[36]  S. Johansson,et al.  Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications , 2015, European journal of endocrinology.

[37]  D. Haffner,et al.  Disorders of Phosphorus Metabolism , 2016 .

[38]  Z. Aycan,et al.  Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets , 2015, Journal of pediatric endocrinology & metabolism : JPEM.

[39]  M. Econs.  Conventional Therapy in Adults With XLH Improves Dental Manifestations, But Not Enthesopathy. , 2015, The Journal of clinical endocrinology and metabolism.

[40]  M. Brandi,et al.  Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. , 2015, Bone.

[41]  Raghbir Kaur,et al.  Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. , 2015, The Journal of clinical endocrinology and metabolism.

[42]  M. Ramachandran,et al.  Normal lower limb variants in children , 2015, BMJ : British Medical Journal.

[43]  D. Popkov,et al.  Results of deformity correction in children with X-linked hereditary hypophosphatemic rickets by external fixation or combined technique , 2015, International Orthopaedics.

[44]  I. Endo,et al.  Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment. , 2015, Endocrine journal.

[45]  V. Vega-Warner,et al.  Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets , 2015, PloS one.

[46]  Melinda S. Sharkey,et al.  Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets , 2015, The Journal of the American Academy of Orthopaedic Surgeons.

[47]  T. Carpenter,et al.  Hypophosphatemic Rickets: Lessons from Disrupted FGF23 Control of Phosphorus Homeostasis , 2015, Current Osteoporosis Reports.

[48]  Fengping Xu,et al.  Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing , 2015, Biological chemistry.

[49]  R. Geiger,et al.  Sex-, age-, and height-specific reference curves for the 6-min walk test in healthy children and adolescents , 2015, European Journal of Pediatrics.

[50]  C. Wagner,et al.  Genetic diseases of renal phosphate handling. , 2014, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[51]  Jane H. Zhang,et al.  Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. , 2014, The Journal of clinical endocrinology and metabolism.

[52]  H. Christesen,et al.  Treatment of hypophosphataemic rickets in children remains a challenge. , 2014, Danish medical journal.

[53]  A. Hedge,et al.  PHEX Mimetic (SPR4-Peptide) Corrects and Improves HYP and Wild Type Mice Energy-Metabolism , 2014, PloS one.

[54]  Hae-Ryong Song,et al.  The Significance of Serum Phosphate Level on Healing Index and Its Relative Effects in Skeletally Immature and Mature Patients with Hypophosphatemic Rickets , 2014, BioMed research international.

[55]  M. Peacock,et al.  Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. , 2014, The Journal of clinical investigation.

[56]  Leah R. Padgett,et al.  Iron and fibroblast growth factor 23 in X-linked hypophosphatemia. , 2014, Bone.

[57]  P. Wicart,et al.  Therapeutic management of hypophosphatemic rickets from infancy to adulthood , 2014, Endocrine connections.

[58]  K. Ozono,et al.  Serum Fibroblast Growth Factor 23 Is a Useful Marker to Distinguish Vitamin D-Deficient Rickets from Hypophosphatemic Rickets , 2014, Hormone Research in Paediatrics.

[59]  U. Alon,et al.  Hypophosphatemic rickets due to perturbations in renal tubular function , 2014, Pediatric Nephrology.

[60]  K. White,et al.  Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia. , 2013, Bone.

[61]  W. Sellers,et al.  Pharmacological inhibition of fibroblast growth factor (FGF) receptor signaling ameliorates FGF23‐mediated hypophosphatemic rickets , 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[62]  F. Glorieux,et al.  Cortical and trabecular bone density in X-linked hypophosphatemic rickets. , 2013, The Journal of clinical endocrinology and metabolism.

[63]  F. Glorieux,et al.  The muscle-bone relationship in X-linked hypophosphatemic rickets. , 2013, The Journal of clinical endocrinology and metabolism.

[64]  B. Friberg.  Brånemark system implants and rare disorders: a report of six cases. , 2013, The International journal of periodontics & restorative dentistry.

[65]  C. Mølgaard,et al.  High bone mineral apparent density in children with X-linked hypophosphatemia , 2013, Osteoporosis International.

[66]  Y. Liu,et al.  Hexa‐D‐arginine treatment increases 7B2•PC2 activity in hyp‐mouse osteoblasts and rescues the HYP phenotype , 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[67]  B. Angelin,et al.  Circulating fibroblast growth factors as metabolic regulators--a critical appraisal. , 2012, Cell metabolism.

[68]  T. Fujita,et al.  Mutational analysis of patients with FGF23-related hypophosphatemic rickets. , 2012, European journal of endocrinology.

[69]  K. Brusgaard,et al.  Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets , 2012, Journal of Human Genetics.

[70]  Frank Rauch,et al.  Abnormalities in muscle density and muscle function in hypophosphatemic rickets. , 2012, The Journal of clinical endocrinology and metabolism.

[71]  C. Chaussain,et al.  Tooth dentin defects reflect genetic disorders affecting bone mineralization. , 2012, Bone.

[72]  E. Zachou,et al.  Endodontic management in a patient with vitamin D-resistant Rickets. , 2012, Journal of endodontics.

[73]  P. Rowe.  Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway. , 2012, Critical reviews in eukaryotic gene expression.

[74]  S. Ellard,et al.  Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment , 2012, Pediatric Nephrology.

[75]  U. Alon,et al.  Periodontal status of patients with hypophosphatemic rickets: a case series. , 2011, Journal of periodontology.

[76]  A. Go,et al.  FGF23 induces left ventricular hypertrophy. , 2011, The Journal of clinical investigation.

[77]  D. Fischer,et al.  Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion. , 2011, The Journal of clinical endocrinology and metabolism.

[78]  T. Dagi,et al.  Papilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis , 2011, Case Reports in Ophthalmology.

[79]  M. Kurajoh,et al.  Evaluation of bone markers in hypophosphatemic rickets/osteomalacia , 2011, Endocrine.

[80]  I. Holm,et al.  A clinician's guide to X‐linked hypophosphatemia , 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[81]  Gordon H Guyatt,et al.  GRADE guidelines: 2. Framing the question and deciding on important outcomes. , 2011, Journal of clinical epidemiology.

[82]  S. Vasuvattakul,et al.  Randomized trial comparing pulse calcitriol and alfacalcidol for the treatment of secondary hyperparathyroidism in haemodialysis patients , 2011, Nephrology.

[83]  P. Brosnan,et al.  Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets , 2011, Clinical endocrinology.

[84]  Alam Khan,et al.  Alkaline phosphatase as a screening test for osteomalacia. , 2011, Journal of Ayub Medical College, Abbottabad : JAMC.

[85]  M. Hammad,et al.  Case Report: Hypophosphatemic rickets and aggressive periodontitis: a review of the role of dentine matrix protein 1 in the pathogenesis , 2011, European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry.

[86]  Y. Hasegawa,et al.  High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH. , 2011, Endocrine journal.

[87]  T. Carpenter.  The expanding family of hypophosphatemic syndromes , 2011, Journal of Bone and Mineral Metabolism.

[88]  L. Eralp,et al.  Combined technique for the correction of lower-limb deformities resulting from metabolic bone disease. , 2011, The Journal of bone and joint surgery. British volume.

[89]  J. M. García-Sagredo,et al.  Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type , 2011, BMC Medical Genetics.

[90]  L. Eralp,et al.  Comparison of fixator-assisted nailing versus circular external fixator for bone realignment of lower extremity angular deformities in rickets disease , 2011, Archives of Orthopaedic and Trauma Surgery.

[91]  D. Haffner,et al.  Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets , 2011, Pediatric Nephrology.

[92]  Jane H. Zhang,et al.  Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. , 2010, The Journal of clinical endocrinology and metabolism.

[93]  M. Yavropoulou,et al.  Cinin hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review , 2010, Hormones.

[94]  P. Vestergaard,et al.  Phenotype Presentation of Hypophosphatemic Rickets in Adults , 2010, Calcified Tissue International.

[95]  T. Shimada,et al.  Therapeutic Effects of Anti‐FGF23 Antibodies in Hypophosphatemic Rickets/Osteomalacia , 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[96]  J. Camargo,et al.  Glomerular filtration rate measurement and prediction equations , 2009, Clinical chemistry and laboratory medicine.

[97]  C. Macica,et al.  Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice , 2009, Calcified Tissue International.

[98]  Z. Hochberg,et al.  Hypophosphatemia: the common denominator of all rickets , 2009, Journal of Bone and Mineral Metabolism.

[99]  C. Chaussain,et al.  Familial hypophosphatemic vitamin D-resistant rickets--prevention of spontaneous dental abscesses on primary teeth: a case report. , 2009, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

[100]  A. Murthy.  X-linked hypophosphatemic rickets and craniosynostosis. , 2009, The Journal of craniofacial surgery.

[101]  T. K. Jensen,et al.  Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. , 2009, European journal of endocrinology.

[102]  Y. Hasegawa,et al.  Patients with Hypophosphatemic Osteomalacia Need Continuous Treatment during Adulthood , 2009, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

[103]  M. Garabédian,et al.  PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets , 2009, Human Genetics.

[104]  C. Netelenbos,et al.  A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. , 2008, European journal of endocrinology.

[105]  F. Grill,et al.  Deformity Correction in Children with Hereditary Hypophosphatemic Rickets , 2008, Clinical orthopaedics and related research.

[106]  M. Econs,et al.  Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. , 2008, Bone.

[107]  P. Stevens,et al.  Guided Growth for Pathological Physes: Radiographic Improvement During Realignment , 2008, Journal of pediatric orthopedics.

[108]  K. Kaufman,et al.  Effect of local alignment on compartmental patterns of knee osteoarthritis. , 2008, The Journal of bone and joint surgery. American volume.

[109]  I. Endo,et al.  Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. , 2008, Bone.

[110]  Jason R. Stubbs,et al.  Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. , 2008, Clinical journal of the American Society of Nephrology : CJASN.

[111]  S. Kant,et al.  Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. , 2008, The Journal of clinical endocrinology and metabolism.

[112]  H. Tsuchiya,et al.  Deformity correction for vitamin D-resistant hypophosphatemic rickets of adults , 2008, Archives of Orthopaedic and Trauma Surgery.

[113]  M. Goldberg,et al.  Dentin structure in familial hypophosphatemic rickets: benefits of vitamin D and phosphate treatment. , 2007, Oral diseases.

[114]  G. Currarino.  Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases , 2007, Pediatric Radiology.

[115]  G. Ariceta,et al.  Growth in X-linked hypophosphatemic rickets , 2007, European Journal of Pediatrics.

[116]  J. Jacobson,et al.  Case 97: X-linked hypophosphatemic osteomalacia with insufficiency fracture. , 2006, Radiology.

[117]  Xi Jiang,et al.  Pathogenic role of Fgf23 in Hyp mice. , 2006, American journal of physiology. Endocrinology and metabolism.

[118]  G. Baroncelli,et al.  Prevalence and pathogenesis of dental and periodontal lesions in children with X-linked hypophosphatemic rickets. , 2006, European journal of paediatric dentistry.

[119]  H. Nishio,et al.  Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. , 2006, The Journal of clinical endocrinology and metabolism.

[120]  A. Mithal,et al.  Changes in bone mineral density following treatment of osteomalacia. , 2006, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.

[121]  V. Koch,et al.  Hypophosphatemic rickets: results of a long-term follow-up , 2006, Pediatric Nephrology.

[122]  H. Omar,et al.  Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets , 2005, TheScientificWorldJournal.

[123]  R. Shiffman,et al.  Classifying Recommendations for Clinical Practice Guidelines , 2004, Pediatrics.

[124]  M. Syczewska,et al.  Anthropometric characteristics of X‐linked hypophosphatemia , 2004, American journal of medical genetics. Part A.

[125]  O. Mäkitie,et al.  Growth and Metabolic Control during Puberty in Girls with X-Linked Hypophosphataemic Rickets , 2004, Hormone Research in Paediatrics.

[126]  O. Mehls,et al.  The enigma of hyperparathyroidism in hypophosphatemic rickets , 2004, Pediatric Nephrology.

[127]  A. Krause,et al.  Assessment of maximal tubular phosphate reabsorption: comparison of direct measurement with the nomogram of Bijvoet , 1988, Pediatric Nephrology.

[128]  N. Guañabens,et al.  Hypophosphatemic osteomalacia: a report of five cases and evaluation of bone markers , 2004, Journal of Bone and Mineral Metabolism.

[129]  O. Mäkitie,et al.  Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. , 2003, The Journal of clinical endocrinology and metabolism.

[130]  Pamela Sass,et al.  Lower extremity abnormalities in children. , 2003, American family physician.

[131]  K. White,et al.  Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. , 2003, The New England journal of medicine.

[132]  G. Godeau,et al.  Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D. , 2003, The Journal of pediatrics.

[133]  O. Mäkitie,et al.  Prolonged high‐dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X‐linked hypophosphatemic rickets , 2003, Clinical endocrinology.

[134]  M. Geffner,et al.  Hypertension in hypophosphatemic rickets—role of secondary hyperparathyroidism , 2003, Pediatric Nephrology.

[135]  I. Dudkiewicz,et al.  Elongation of long bones for short stature in patients with hypophosphatemic rickets. , 2003, The Israel Medical Association journal : IMAJ.

[136]  Y. Takeuchi,et al.  Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. , 2002, The Journal of clinical endocrinology and metabolism.

[137]  Econor,et al.  ANNEX I SUMMARY OF PRODUCT CHARACTERISTICS , 2002 .

[138]  B. Harding,et al.  X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. , 2001, The Journal of clinical endocrinology and metabolism.

[139]  C. Cowell,et al.  Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. , 2001, The Journal of clinical endocrinology and metabolism.

[140]  C. Kleinman,et al.  Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets. , 2001, Current opinion in pediatrics.

[141]  J. Risteli,et al.  Effect of chronic renal failure on bone turnover and bone alkaline phosphatase isoforms. , 2001, Kidney international.

[142]  M. Baum,et al.  Thiazide diuretics arrest the progression of nephrocalcinosis in children with X-linked hypophosphatemia. , 2001, Pediatrics.

[143]  G. Saggese,et al.  Effect of growth hormone treatment on final height, phosphate metabolism, and bone mineral density in children with X-linked hypophosphatemic rickets. , 2001, The Journal of pediatrics.

[144]  I. Kaitila,et al.  Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets , 2000 .

[145]  Y. Hasegawa,et al.  Final height of Japanese patients with X-linked hypophosphatemic rickets: effect of vitamin D and phosphate therapy. , 2000, Endocrine journal.

[146]  P. Goodyer,et al.  PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia , 1999, Pediatric Nephrology.

[147]  C. Tylkowski,et al.  The effect of osteotomy on bowing and height in children with X-linked hypophosphatemia. , 1999, Journal of pediatric orthopedics.

[148]  D. Schlessinger,et al.  Mutational analysis of PHEX gene in X-linked hypophosphatemia. , 1998, The Journal of clinical endocrinology and metabolism.

[149]  D. Resnick.  Implant placement and guided tissue regeneration in a patient with congenital vitamin D-resistant rickets. , 1998, The Journal of oral implantology.

[150]  W. Mcalister,et al.  X-linked hypophosphatemia: normal renal function despite medullary nephrocalcinosis 25 years after transient vitamin D2-induced renal azotemia. , 1997, Bone.

[151]  C. Kovacs,et al.  Maternal-fetal calcium and bone metabolism during pregnancy, puerperium, and lactation. , 1997, Endocrine reviews.

[152]  T. Takano-Yamamoto,et al.  Orthodontic treatment of a patient with hypophosphatemic vitamin D-resistant rickets. , 1997, ASDC journal of dentistry for children.

[153]  J. Fahey,et al.  Cardiovascular abnormalities in patients with X-linked hypophosphatemia. , 1997, The Journal of clinical endocrinology and metabolism.

[154]  L. Kunkel,et al.  Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. , 1997, American journal of human genetics.

[155]  T. Beattie,et al.  Craniosynostosis in X‐linked hypophosphataemic rickets , 1997, Journal of paediatrics and child health.

[156]  F. Schranck,et al.  X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. , 1996, The Journal of clinical endocrinology and metabolism.

[157]  F. Glorieux,et al.  24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study. , 1996, The Journal of clinical endocrinology and metabolism.

[158]  M. Prokop,et al.  Clinical course of hypophosphatemic rickets in 23 adults. , 1996, Clinical nephrology.

[159]  R. Browne,et al.  Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia. , 1996, Pediatrics.

[160]  R. R. Smith,et al.  Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance. , 1995, Radiology.

[161]  A. Poustka,et al.  A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets , 1995, Nature Genetics.

[162]  R. Browne,et al.  The effect of phosphate supplementation on linear growth in children with X-linked hypophosphatemia. , 1994, Pediatrics.

[163]  D. Stanitski.  Treatment of deformity secondary to metabolic bone disease with the Ilizarov technique. , 1994, Clinical orthopaedics and related research.

[164]  F. Glorieux,et al.  A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets. , 1992, The Journal of clinical endocrinology and metabolism.

[165]  U. Alon,et al.  Nephrocalcinosis, Hyperparathyroidism, and Renal Failure in Familial Hypophosphatemic Rickets , 1992, Clinical pediatrics.

[166]  J. Simpson,et al.  Effects of therapy in X-linked hypophosphatemic rickets. , 1991, The New England journal of medicine.

[167]  E. Kirwan,et al.  The orthopaedic management of hypophosphataemic rickets. , 1991, Journal of pediatric orthopedics.

[168]  A. Bettinelli,et al.  Acute effects of calcitriol and phosphate salts on mineral metabolism in children with hypophosphatemic rickets. , 1991, The Journal of pediatrics.

[169]  C. Bergadá,et al.  Bone mineral density of the spine and radius shaft in children with X-linked hypophosphatemic rickets (XLH). , 1991, Bone and mineral.

[170]  W. Murphy,et al.  X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. , 1991, The American journal of medicine.

[171]  Julio E. Pérez,et al.  Normal left ventricular performance in children with x‐linked hypophosphatemic rickets: A doppler echocardiography study , 1990, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[172]  M. Tieder,et al.  Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: influence of treatment regimen and parental height. , 1990, The Journal of pediatrics.

[173]  F. Glorieux,et al.  Principles and results of corrective lower limb osteotomies for patients with vitamin D-resistant hypophosphatemic rickets. , 1988, Clinical orthopaedics and related research.

[174]  J. Adams,et al.  The petrous temporal bone and deafness in X-linked hypophosphataemic osteomalacia. , 1988, Clinical radiology.

[175]  T. Ooshima,et al.  Structural deformities of deciduous teeth in patients with hypophosphatemic vitamin D-resistant rickets. , 1988, Oral surgery, oral medicine, and oral pathology.

[176]  P. Goodyer,et al.  Nephrocalcinosis and its relationship to treatment of hereditary rickets. , 1987, The Journal of pediatrics.

[177]  V. Chinchilli,et al.  Renal hypophosphatemic rickets. Growth and mineral metabolism after treatment with calcitriol (1,25-dihydroxyvitamin D3) and phosphate supplementation. , 1987, American journal of diseases of children.

[178]  R. Meyer,et al.  Increased metabolic rate in X-linked hypophosphatemic mice. , 1986, Endocrinology.

[179]  J. Harrelson,et al.  Calcification of entheses associated with X-linked hypophosphatemic osteomalacia. , 1985, The New England journal of medicine.

[180]  J. Harrelson,et al.  Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol. , 1985, The Journal of clinical investigation.

[181]  U. Alon,et al.  Effects of hydrochlorothiazide and amiloride in renal hypophosphatemic rickets. , 1985, Pediatrics.

[182]  M. O'callaghan,et al.  Dental defects in the deciduous dentition of premature infants with low birth weight and neonatal rickets. , 1984, Pediatric dentistry.

[183]  R. Kane,et al.  Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia. , 1984, Annals of internal medicine.

[184]  P. Krasilnikoff,et al.  Premature Cranial Synostosis in X‐Linked Hypophosphatemic Rickets: Possible Precipitation by 1‐alpha‐OH‐Cholecalciferol Intoxication , 1984, Acta paediatrica Scandinavica.

[185]  H. DeLuca,et al.  Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets. , 1983, Pediatrics.

[186]  H. Rasmussen,et al.  Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1α-hydroxyvitamin D3 , 1981 .

[187]  F. Glorieux,et al.  X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization. , 1981, The Journal of clinical endocrinology and metabolism.

[188]  H. Rasmussen,et al.  Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1 alpha-hydroxyvitamin D3. , 1981, The Journal of pediatrics.

[189]  F. Glorieux,et al.  Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. , 1980, The New England journal of medicine.

[190]  J. Gage,et al.  Primary hypophosphatemic rickets. Effect of oral phosphate and vitamin D on growth and surgical treatment. , 1980, The Journal of bone and joint surgery. American volume.

[191]  S. Teitelbaum,et al.  The effects of phosphate and vitamin D therapy on osteopenic, hypophosphatemic osteomalacia of childhood. , 1976, Clinical orthopaedics and related research.