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
2020
SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta
Choksi I, Carpenter T, Robinson C. SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta. Journal Of The Endocrine Society 2020, 4: sun-lb19. PMCID: PMC7209160, DOI: 10.1210/jendso/bvaa046.2020.Peer-Reviewed Original ResearchVertebral compression fracturesOsteogenesis imperfectaNovel homozygous mutationRare formMultiple vertebral compression fracturesBilateral tibial fracturesNormal serum calciumHigh-resolution peripheral quantitative CTHomozygous mutationLumbar spine BMDTotal hip BMDVertebral height lossEffectiveness of bisphosphonatesFemoral neck BMDProtein 1Age 6 yearsAge 2.5 yearsPeripheral quantitative CTGross motor delayAutosomal recessive osteogenesis imperfectaBroad phenotypic spectrumBP therapySpinal osteopeniaSubtle facial dysmorphismSymptomatic relief
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