2019
The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
Skrinar A, Dvorak-Ewell M, Evins A, Macica C, Linglart A, Imel E, Theodore-Oklota C, San Martin J. The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey. Journal Of The Endocrine Society 2019, 3: 1321-1334. PMID: 31259293, PMCID: PMC6595532, DOI: 10.1210/js.2018-00365.Peer-Reviewed Original ResearchPatient-reported outcomesActive vitamin DParents/caregiversVitamin DMean ageExcess fibroblast growth factor 23Joint pain/stiffnessFibroblast growth factor 23Pain/stiffnessGrowth factor 23History of fractureSubstantial disease burdenBurden of diseaseHuman monoclonal antibodyTibia/fibulaAssistive device useSymptom onsetFactor 23Spinal stenosisPhysical functionDisease burdenDisease manifestationsPhysical functioningCurrent treatmentAbnormal gait
2012
Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice
Karaplis A, Bai X, Falet J, Macica C. Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice. Endocrinology 2012, 153: 5906-5917. PMID: 23038738, PMCID: PMC3512070, DOI: 10.1210/en.2012-1551.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsExtracellular Matrix ProteinsFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedImmunohistochemistryKidneyMaleMiceMice, Inbred C57BLMice, TransgenicModels, GeneticMutationPedigreePhosphatesPhosphoproteinsRheumatic DiseasesTransgenesUp-RegulationConceptsPhosphate-wasting disordersStandard therapyFGF23 levelsElevated fibroblast growth factor 23Hyp miceRenal phosphate-wasting disordersFibroblast growth factor 23High FGF23 levelsGrowth factor 23Elevated FGF23 levelsAction of FGF23Dentin matrix acidic phosphoprotein 1Phosphate wasting disorderAutosomal recessive hypophosphatemic ricketsRecessive hypophosphatemic ricketsLigament insertion sitesChildhood managementOral phosphateFactor 23Achilles insertionDisease morbidityPotential morbidityBone spursUntoward effectsMurine model