2024
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries
Goldsweig B, Yilmaz R, Waikar A, Brownstein C, Carpenter T. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries. Journal Of Bone And Mineral Research 2024, 39: 1406-1411. PMID: 39163488, DOI: 10.1093/jbmr/zjae137.Peer-Reviewed Original ResearchFamilial hypocalciuric hypercalcemiaCalcium-sensing receptor geneLow calcium formulaParathyroid hormoneHypocalciuric hypercalcemiaSerum calciumUrinary calcium excretionElevated serum calciumAutosomal-dominant mannerWhole-exome sequencingExtracellular calcium-sensingMonths of ageMild hyperparathyroidismPTH levelsCalcium excretionIdiopathic hypoparathyroidismNewborn girlInactivating variantsRare formPathogenic variantsDownstream signaling proteinsManagement quandaryBenign conditionsReceptor geneExome sequencingQuantitative correlation of ENPP1 pathogenic variants with disease phenotype
Ansh A, Stabach P, Ciccone C, Cao W, De La Cruz E, Sabbagh Y, Carpenter T, Ferreira C, Braddock D. Quantitative correlation of ENPP1 pathogenic variants with disease phenotype. Bone 2024, 186: 117136. PMID: 38806089, PMCID: PMC11227391, DOI: 10.1016/j.bone.2024.117136.Peer-Reviewed Original ResearchEctonucleotide pyrophosphatase/phosphodiesterase 1Pathogenic variantsDisease phenotypeEnzyme velocityCompound heterozygotesEnzyme activityVariable enzyme activityAutosomal dominant phenotypeHigh-throughput assayAutosomal recessive formInnate immune responseENPP1 variantsDamaging variantsENPP1 deficiencyCole diseaseDominant phenotypeAutosomal dominant diseaseCatalytic velocityRecessive formEnzymePhenotypeWT levelsBio-active moleculesClinical phenotypeDominant disease
2023
Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia
Barros J, Braddock D, Carpenter T. Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia. Bone Reports 2023, 19: 101707. PMID: 37654679, PMCID: PMC10466911, DOI: 10.1016/j.bonr.2023.101707.Peer-Reviewed Original ResearchMonths of ageCraniometaphyseal dysplasiaLow serum phosphorusElevated serum alkaline phosphatase activityHeterozygous pathogenic variantsSerum alkaline phosphatase activityHigh tubular reabsorptionProgressive hyperostosisSecondary hyperparathyroidismRadiographic improvementSerum phosphorusTubular reabsorptionRadiographic changesCranial nervesEarly featureMetaphyseal flaringPathogenic variantsDysplasiaRicketsSkeletal dysplasiaBiochemical profileMonthsLong bonesCraniofacial bonesAge 1