2024
Erratum to “An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).” Kidney International 2023;105:1058–1076
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter T, Lazaretti-Castro M, Colazo J, McCrystal Dahir K, Geßner M, Gurevich E, Heier C, Simmons J, Hunley T, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott S, Peña H, Santos F, Tebben P, Topor L, Deng Y, Bergwitz C. Erratum to “An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).” Kidney International 2023;105:1058–1076. Kidney International 2024, 106: 159. PMID: 38906648, DOI: 10.1016/j.kint.2024.05.005.Peer-Reviewed Original Research
2011
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi‐IIc mutation
Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi‐IIc mutation. American Journal Of Medical Genetics Part A 2011, 155: 626-633. PMID: 21344632, PMCID: PMC4777326, DOI: 10.1002/ajmg.a.33832.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceChild, PreschoolFamilial Hypophosphatemic RicketsFemaleHumansHypercalciuriaInfantInfant, NewbornMaleMolecular Sequence DataMutationNephrolithiasisPedigreePolymorphism, Single NucleotidePregnancyRestriction MappingReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSodium-Phosphate Cotransporter Proteins, Type IIcConceptsHereditary hypophosphatemic ricketsHypophosphatemic ricketsElevated 1,25-dihydroxyvitamin DGastrointestinal calcium absorptionHistory of nephrolithiasisIncreased gastrointestinal calcium absorptionPTH levelsRecurrent nephrolithiasisRenal ultrasoundSerum calciumCalcium absorptionNaPi-IIcPatient's motherHypercalciuriaSplicing mutationCompound heterozygosityNephrolithiasisRicketsNovel splice mutationHHRHDihydroxyvitaminPhenotypic changesMutationsMothersSplice mutation