{"id":{"repo_id":"debrecen","oai_identifier":"oai:dea.lib.unideb.hu:2437/357978"},"canonical_url":"https://search.dev.ndltd.org/etd/debrecen/oai:dea.lib.unideb.hu:2437/357978","repository":{"repo_id":"debrecen","name":"University of Debrecen","base_url":"https://dea.lib.unideb.hu/server/oai/request"},"display":{"title":"Clinical Diagnosis, Genetic Background and Treatment of Vitamin-D Resistant Hypophosphatemic Ricket","abstract":"X-linked hypophosphatemia (XLH) is the most common heritable form of rickets. It involves loss-of-function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, which give rise to the increase of fibroblast growth factor 23 (FGF23). Excess FGF23 reduces renal phosphate reabsorption, hence hypophosphatemia, and consequentially diminishes the synthesis of active vitamin D. Treatment includes conventional therapy of phosphate and active vitamin D, together with correction of bone deformities and monitoring treatment-related side effects. Burosumab, a recombinant monoclonal antibody directed at FGF23, is a first-line treatment option for XLH.","abstract_html":"X-linked hypophosphatemia (XLH) is the most common heritable form of rickets. It involves loss-of-function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, which give rise to the increase of fibroblast growth factor 23 (FGF23). Excess FGF23 reduces renal phosphate reabsorption, hence hypophosphatemia, and consequentially diminishes the synthesis of active vitamin D. Treatment includes conventional therapy of phosphate and active vitamin D, together with correction of bone deformities and monitoring treatment-related side effects. Burosumab, a recombinant monoclonal antibody directed at FGF23, is a first-line treatment option for XLH.","abstract_has_math":false,"creators":["Tran, Luong Minh Khoi"],"institution":null,"degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":"DE--Általános Orvostudományi Kar","school":null,"contributors":[],"advisors":["Szabó, Tamás"],"committee_chairs":[],"committee_members":[],"year":null,"date_issued":"","date_published":null,"updated_at":"2026-07-27T19:13:37Z","subjects":["XLH","FGF23","Burosumab"],"languages":["en"],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://hdl.handle.net/2437/357978","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Szabó, Tamás"]},{"key":"dc:contributor.department","label":"Department","values":["DE--Általános Orvostudományi Kar"]},{"key":"dc:creator","label":"Author","values":["Tran, Luong Minh Khoi"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2023-08-03T08:15:30Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2023-08-03T08:15:30Z"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["XLH","FGF23","Burosumab"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language.iso","label":"Language (ISO)","values":["en"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["https://hdl.handle.net/2437/357978"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["X-linked hypophosphatemia (XLH) is the most common heritable form of rickets. It involves loss-of-function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, which give rise to the increase of fibroblast growth factor 23 (FGF23). Excess FGF23 reduces renal phosphate reabsorption, hence hypophosphatemia, and consequentially diminishes the synthesis of active vitamin D. Treatment includes conventional therapy of phosphate and active vitamin D, together with correction of bone deformities and monitoring treatment-related side effects. Burosumab, a recombinant monoclonal antibody directed at FGF23, is a first-line treatment option for XLH."]},{"key":"dc:description.degree","label":"Dc Description Degree","values":["egységes, osztatlan"]},{"key":"dc:title","label":"Title","values":["Clinical Diagnosis, Genetic Background and Treatment of Vitamin-D Resistant Hypophosphatemic Ricket"]}]}],"canonical_facts":{"dc:contributor.advisor":["Szabó, Tamás"],"dc:contributor.department":["DE--Általános Orvostudományi Kar"],"dc:creator":["Tran, Luong Minh Khoi"],"dc:date.accessioned":["2023-08-03T08:15:30Z"],"dc:date.available":["2023-08-03T08:15:30Z"],"dc:description.abstract":["X-linked hypophosphatemia (XLH) is the most common heritable form of rickets. It involves loss-of-function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, which give rise to the increase of fibroblast growth factor 23 (FGF23). Excess FGF23 reduces renal phosphate reabsorption, hence hypophosphatemia, and consequentially diminishes the synthesis of active vitamin D. Treatment includes conventional therapy of phosphate and active vitamin D, together with correction of bone deformities and monitoring treatment-related side effects. Burosumab, a recombinant monoclonal antibody directed at FGF23, is a first-line treatment option for XLH."],"dc:description.degree":["egységes, osztatlan"],"dc:identifier.uri":["https://hdl.handle.net/2437/357978"],"dc:language.iso":["en"],"dc:subject":["XLH","FGF23","Burosumab"],"dc:title":["Clinical Diagnosis, Genetic Background and Treatment of Vitamin-D Resistant Hypophosphatemic Ricket"]},"updated_at":"2026-07-27T19:13:37Z"}