2021
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature
Christensen S, Tebben P, Sas D, Creo A. Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature. Hormone Research In Paediatrics 2021, 94: 374-389. PMID: 34666334, DOI: 10.1159/000520299.Peer-Reviewed Original ResearchConceptsHereditary hypophosphatemic ricketsRenal symptomsPhosphate wastingHypophosphatemic ricketsVariable clinical presentationRenal phosphate wastingPhenotype-genotype correlationSLC34A3 mutationsUrine phosphateBone symptomsCase seriesMineralization defectRare conditionSLC34A3 variantsSerum phosphorusHHRHAccurate diagnosisUrinary stonesPatientsCombined boneHypercalciuriaLiterature reviewSymptomsSLC34A3Systematic literature review
2016
Primary Hyperparathyroidism in Children and Adolescents
Lo H, Tebben P. Primary Hyperparathyroidism in Children and Adolescents. 2016, 117-128. DOI: 10.1007/978-3-319-25880-5_14.ChaptersPrimary hyperparathyroidismMultiple-gland diseaseSporadic primary hyperparathyroidismDegree of hypercalcemiaAssociated with greater morbidityEnd-organ damageTime of diagnosisHigh-volume surgeonsParathyroid hormone concentrationsTarget organ sensitivityPediatric patientsRare conditionYounger patientsGreater morbidityEndocrine surgeryEndocrine disordersFamilial diseaseAffected organsHormone concentrationsHyperparathyroidismSurgeryPatientsDiseaseAdultsHypercalciuria