2022
Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
Weber TJ, Imel EA, Carpenter TO, Peacock M, Portale AA, Hetzer J, Merritt JL, Insogna K. Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2022, 108: 155-165. PMID: 36072994, PMCID: PMC9759172, DOI: 10.1210/clinem/dgac518.Peer-Reviewed Original ResearchConceptsSerum phosphate levelsPatient-reported outcomesNormal rangeBurosumab therapyTreatment optionsEffective long-term treatment optionLong-term extension studyLong-term treatment optionNew safety findingsBone turnover markersLong-term administrationPhosphate levelsRespective normal rangesProportion of subjectsLong-term safetyLast doseAdult patientsClinical responseSafety findingsTurnover markersSerum phosphateBone biomarkersStudy endWeek 12Burosumab treatmentAssociation of Serum Pyridoxal Phosphate Levels with Established Status Epilepticus
Rubinos C, Bruzzone MJ, Blodgett C, Tsai C, Patel P, Hianik R, Jadav R, Boudesseul J, Liu C, Zhu H, Wilson SE, Olm-Shipman C, Meeker R, Hirsch LJ. Association of Serum Pyridoxal Phosphate Levels with Established Status Epilepticus. Neurocritical Care 2022, 38: 41-51. PMID: 36071331, DOI: 10.1007/s12028-022-01579-z.Peer-Reviewed Original ResearchConceptsStatus epilepticusPyridoxal phosphate levelsPLP levelsPyridoxine deficiencyHigh prevalenceControl groupMethodsThis retrospective cohort studyIntensive care unit patientsYale-New Haven HospitalCritical illness severitySerum PLP levelsRetrospective cohort studyCare unit patientsNon-ICU inpatientsPhosphate levelsHistory of epilepsyRole of pyridoxineNorth Carolina HospitalsNew Haven HospitalUnit patientsCohort studyMedian ageIllness severityPyridoxine supplementationProspective study
2018
An Unusual Presentation of Hypophosphatemic Rickets
Ang K, Patel A, Berkwitt A. An Unusual Presentation of Hypophosphatemic Rickets. AACE Clinical Case Reports 2018, 4: 35-38. DOI: 10.4158/ep171853.cr.Peer-Reviewed Original ResearchHypophosphatemic ricketsBone mineralizationDietary intakeGastrointestinal absorptionPTH parathyroid hormoneResolution of hypophosphatemiaCareful dietary historyRenal phosphate wastingAppropriate dietary intakeDietary maneuversParathyroid hormoneLikely etiologyCase reportDefective bone mineralizationUnusual presentationRenal excretionPhosphate wastingDietary historyRicketsHypophosphatemiaPhosphate levelsEtiologyIntakeAbsorption of phosphateLiterature review
2008
A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism
Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-3460. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsAlpha-KlothoExcessive renal lossPhosphate levelsParathyroid massRenal failureRenal osteodystrophyFGF23 levelsMajor complicationsParathyroid hyperplasiaKidney failureRenal lossBeta-glucuronidase activityNormal responseHyperparathyroidismEnergy homeostasisRicketsBone formationSkeletal abnormalitiesPhysiologic processesPhosphate homeostasisHyperphosphatemiaPatientsHyperplasiaBone defects
1970
Abnormalities of Tryptophan Metabolism and Plasma Pyridoxal Phosphate in Hodgkin's Disease
Chabner B, DeVita V, Livingston D, Oliverio V. Abnormalities of Tryptophan Metabolism and Plasma Pyridoxal Phosphate in Hodgkin's Disease. New England Journal Of Medicine 1970, 282: 838-843. PMID: 5418547, DOI: 10.1056/nejm197004092821504.Peer-Reviewed Original ResearchConceptsHodgkin's diseaseUntreated patientsPlasma levelsPlasma pyridoxal phosphate levelsPlasma pyridoxal phosphatePyridoxal phosphate levelsAdvanced diseaseComplete remissionSymptomatic diseaseImmunosuppressive effectsAbnormal resultsPyridoxine deficiencyNormal limitsTryptophan metabolismPatientsDiseasePyridoxal phosphatePhosphate levelsDeficiencyL-tryptophanLittle evidenceMetabolismRemissionChemotherapyAnemia
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