dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Ariceta Iraola, Gema |
dc.contributor.author | Beck-Nielsen, Signe |
dc.contributor.author | Boot, Annemieke |
dc.contributor.author | BRANDI, MARIA LUISA |
dc.contributor.author | Briot, Karine |
dc.contributor.author | De Lucas Collantes, Maria Del Carmen |
dc.date.accessioned | 2023-10-02T09:32:33Z |
dc.date.available | 2023-10-02T09:32:33Z |
dc.date.issued | 2023-09-27 |
dc.identifier.citation | Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, et al. The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data. Orphanet J Rare Dis. 2023 Sep 27;18:304. |
dc.identifier.issn | 1750-1172 |
dc.identifier.uri | https://hdl.handle.net/11351/10387 |
dc.description | Factor de creixement de fibroblasts 23; Registre de pacients; Hipofosfatèmia lligada a X |
dc.description.sponsorship | Kyowa Kirin International, plc is the sponsor of the International XLH Registry and this manuscript. The authors were members of the steering committee for their respective countries. The authors did not receive payment for their contribution to the manuscript. |
dc.language.iso | eng |
dc.publisher | BMC |
dc.relation.ispartofseries | Orphanet Journal of Rare Diseases;18 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Registres mèdics |
dc.subject | Anomalies cromosòmiques |
dc.subject | Raquitisme |
dc.subject | Ronyons - Malalties - Diagnòstic |
dc.subject.mesh | Familial Hypophosphatemic Rickets |
dc.subject.mesh | Delayed Diagnosis |
dc.subject.mesh | /adverse effects |
dc.subject.mesh | Registries |
dc.subject.mesh | Mutation |
dc.title | The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13023-023-02882-4 |
dc.subject.decs | raquitismo hipofosfatémico familiar |
dc.subject.decs | diagnóstico tardío |
dc.subject.decs | /efectos adversos |
dc.subject.decs | registros |
dc.subject.decs | mutación |
dc.relation.publishversion | https://doi.org/10.1186/s13023-023-02882-4 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma Barcelona, Bellaterra, Spain. [Beck-Nielsen SS] Centre for Rare Diseases, Aarhus University Hospital, Åarhus, Denmark. Department of Clinical Medicine, Aarhus University, Åarhus, Denmark. [Boot AM] Department of Pediatrics, Division of Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. [Brandi ML] FIRMO Foundation, Florence, Italy. Donatello Bone Clinic, Florence, Italy. [Briot K] Hôpital Cochin, Service de Rhumatologie, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate Filière OSCAR, AP-HP, Paris, France. [de Lucas Collantes C] Universidad Autónoma de Madrid, Madrid, Spain. Hospital Infantili Niño Jesús, Madrid, Spain |
dc.identifier.pmid | 37752558 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |