Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)

dc.creatorOliveri, María Beatriz
dc.creatorMastaglia, Silvina Rosana
dc.creatorMautalen, Carlos Alfredo
dc.creatorGravano, J.C.
dc.creatorPardo Argerich, L.
dc.date.accessioned2021-01-20T12:23:20Z
dc.date.accessioned2022-10-15T02:21:45Z
dc.date.available2021-01-20T12:23:20Z
dc.date.available2022-10-15T02:21:45Z
dc.date.created2021-01-20T12:23:20Z
dc.date.issued2004-07
dc.identifierOliveri, María Beatriz; Mastaglia, Silvina Rosana; Mautalen, Carlos Alfredo; Gravano, J.C.; Pardo Argerich, L.; Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate); Wiley Blackwell Publishing, Inc; Acta Paediatrica; 93; 7; 7-2004; 1002-1003
dc.identifier0803-5253
dc.identifierhttp://hdl.handle.net/11336/123128
dc.identifierCONICET Digital
dc.identifierCONICET
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/4334563
dc.description.abstractAim: To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (WBS). Results: We report a 14-mo-old male infant presenting hypercalcaemia, elfin face and other dysmorphological features of WBS, confirmed by the FISH fluorescent test. Due to the marked symptomatic hypercalcaemia, 13.0 mg/dl intravenous Pamidronate was administered in a single dose of 1 mg/kg. Two days later, serum calcium diminished to normal levels, and remained within normal range during 12 mo follow-up. Conclusion: Pamidronate appears to be effective in paediatric patients with WBS and hypercalcaemia.
dc.languageeng
dc.publisherWiley Blackwell Publishing, Inc
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/ 10.1080/08035250410026635
dc.relationinfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.2004.tb02703.x
dc.rightshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectHYPERCALCAEMIA
dc.subjectHYPERCALCIURIA
dc.subjectPAMIDRONATE
dc.subjectWILLIAMS-BEUREN SYNDROME
dc.titleLong-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:ar-repo/semantics/artículo
dc.typeinfo:eu-repo/semantics/publishedVersion


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