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 sequencing
1999
Changes in Bone Turnover in Young Women Consuming Different Levels of Dietary Protein1
Kerstetter J, Mitnick M, Gundberg C, Caseria D, Ellison A, Carpenter T, Insogna K. Changes in Bone Turnover in Young Women Consuming Different Levels of Dietary Protein1. The Journal Of Clinical Endocrinology & Metabolism 1999, 84: 1052-1055. PMID: 10084594, DOI: 10.1210/jcem.84.3.5552.Peer-Reviewed Original ResearchUrinary N-telopeptide excretionBone-specific alkaline phosphataseN-telopeptide excretionUrinary calcium excretionBone turnoverLow-protein dietCalcium excretionUrinary calciumProtein dietBone resorptionDietary proteinYoung womenHealthy young womenNegative calcium balanceLow protein intakeHigh-protein dietAlkaline phosphataseSecondary hyperparathyroidismSerum PTHSerum osteocalcinDihydroxyvitamin DCalcium balanceProtein intakeCompensatory increaseDay 4
1989
Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria.
Chen C, Carpenter T, Steg N, Baron R, Anast C. Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. Pediatrics 1989, 84: 276-80. PMID: 2787497, DOI: 10.1542/peds.84.2.276.Peer-Reviewed Original ResearchConceptsYears of ageHypophosphatemic ricketsDihydroxyvitamin DVitamin DHigh-dose vitamin DUrinary phosphorus excretionUrinary calcium excretionNormal serum calciumParathyroid hormone concentrationsPhosphorus therapyCalcium excretionSymptomatic nephrolithiasisAppropriate therapySerum calciumAlkaline phosphatase activitySevere ricketsBone histomorphometryHormone concentrationsIntestinal absorptionTherapeutic implicationsCardinal featuresRicketsModest dosageHypercalciuriaHypophosphatemia