2018
Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation
Ang K, Rangel E, Yuan Q, Wu D, Carpenter TO, Insogna K. Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation. Bone Reports 2018, 9: 154-158. PMID: 30364642, PMCID: PMC6197702, DOI: 10.1016/j.bonr.2018.09.001.Peer-Reviewed Original ResearchLow bone mineral densityLow bone massBone mineral densityWNT1 mutationsMineral densityMonoallelic mutationsBone massSame heterozygous missense mutationLow-impact fracturesExtra-skeletal manifestationsSevere osteogenesis imperfectaCanonical Wnt-β-catenin pathwayWnt-β-catenin pathwayType 1 collagen genesType 1 collagenHeterozygous missense mutationAdult skeletal homeostasisTraumatic fracturesSevere diseaseBiallelic diseaseIndex caseTherapeutic benefitRelated patientsSkeletal homeostasisSkeletal disease
2017
Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children
Ballesteros L, S. N, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children. Bone 2017, 97: 287-292. PMID: 28167344, PMCID: PMC5884631, DOI: 10.1016/j.bone.2017.02.003.Peer-Reviewed Original ResearchConceptsElemental formula useFormula useSkeletal diseaseRetrospective chart reviewInadequate dietary intakeCertain clinical settingsFormula productsEffect of treatmentSevere malabsorptionChart reviewSevere hypocalcemiaClinical featuresClinical profileRenal excretionDietary intakeCommon findingMineral metabolismBone diseaseHypophosphatemiaPhosphate supplementationSkeletal radiographsCareful monitoringComplex illnessRenal conservationClinical setting
2001
Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets
Holm I, Nelson A, Robinson B, Mason R, Marsh D, Cowell C, Carpenter T. Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets. The Journal Of Clinical Endocrinology & Metabolism 2001, 86: 3889-3899. PMID: 11502829, DOI: 10.1210/jcem.86.8.7761.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAmino Acid SubstitutionBone DiseasesChildDNA Mutational AnalysisExonsFamilyFemaleGenotypeHumansHypophosphatemia, FamilialMaleMiddle AgedMutationMutation, MissenseNuclear FamilyPhenotypePHEX Phosphate Regulating Neutral EndopeptidaseProteinsSequence DeletionTooth DiseasesConceptsHypophosphatemic ricketsRickets patientsHypophosphatemic rickets patientsSevere skeletal diseasePHEX mutationsSeverity of diseaseFamily membersGenotype-phenotype correlationPrognostic valueFamily historyPatientsPostpubertal malesEarly identificationSkeletal diseaseGenetic testingRicketsTruncating mutationsDental phenotypeAffected individualsMild phenotypePHEX geneDiseaseMissense mutationsDifferent mutationsSeverity
1999
Evaluation and Treatment of Heritable Forms of Rickets
Levine B, Carpenter T. Evaluation and Treatment of Heritable Forms of Rickets. The Endocrinologist 1999, 9: 358-365. DOI: 10.1097/00019616-199909000-00006.Peer-Reviewed Original ResearchHereditary ricketsOverall treatment strategySpecific therapeutic guidelinesTherapeutic guidelinesPrimary derangementRadiographic featuresTreatment strategiesCorrect diagnosisSkeletal diseaseRicketsRachitic diseaseHeritable formDiseaseChildrenDisorder resultsHypophosphatemiaMajor formDerangementDiagnosis