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The International X-Linked Hypophosphatemia (XLH) Registry:..:
Ariceta Iraola, Gema
;
Beck-Nielsen, Signe
;
Boot, Annemieke
...
Orphanet Journal of Rare Diseases;18. , 2023
Link:
https://hdl.handle.net/11351/10387
RT Journal T1
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
UL https://suche.suub.uni-bremen.de/peid=base-ftscientia:oai:scientiasalut.gencat.cat:11351_10387&Exemplar=1&LAN=DE A1 Ariceta Iraola, Gema A1 Beck-Nielsen, Signe A1 Boot, Annemieke A1 BRANDI, MARIA LUISA A1 Briot, Karine A1 De Lucas Collantes, Maria Del Carmen PB BMC YR 2023 K1 Registres mèdics K1 Anomalies cromosòmiques K1 Raquitisme K1 Ronyons - Malalties - Diagnòstic K1 DISEASES::Congenital K1 Hereditary K1 and Neonatal Diseases and Abnormalities::Genetic Diseases K1 Inborn::Metabolism K1 Inborn Errors::Metal Metabolism K1 Inborn Errors::Hypophosphatemia K1 Familial::Congenital K1 Inborn Errors::Familial Hypophosphatemic Rickets K1 ANALYTICAL K1 DIAGNOSTIC AND THERAPEUTIC TECHNIQUES K1 AND EQUIPMENT::Diagnosis::Delayed Diagnosis K1 Other subheadings::Other subheadings::Other subheadings::/adverse effects K1 AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries K1 PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation K1 ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::alteraciones congénitas del metabolismo de los metales::hipofosfatemia familiar::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::raquitismo hipofosfatémico familiar K1 TÉCNICAS Y EQUIPOS ANALÍTICOS K1 DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::diagnóstico tardío K1 Otros calificadores::Otros calificadores::Otros calificadores::/efectos adversos K1 DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros K1 FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación JF Orphanet Journal of Rare Diseases;18 LK http://dx.doi.org/https://hdl.handle.net/11351/10387 DO https://hdl.handle.net/11351/10387 SF ELIB - SuUB Bremen
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