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
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