The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
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| Title: | The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data. |
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| Authors: | Ariceta G; Department of Pediatric Nephrology, Hospital Vall d'Hebron, Universitat Autonoma Barcelona, Barcelona, Spain. gema.ariceta@vallhebron.cat., 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., Emma F; Division of Nephrology, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy., Giannini S; Department of Medicine, Clinica Medica 1, University of Padova, Padua, Italy., Haffner D; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Keen R; Royal National Orthopaedic Hospital, Stanmore, UK., Levtchenko E; Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, University of Leuven, Leuven, Belgium., Mäkitie O; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Mughal MZ; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Manchester, UK., Nilsson O; Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; School of Medical Sciences and Department of Pediatrics, Örebro University and University Hospital, Örebro, Sweden., Schnabel D; Center for Chronically Sick Children, Pediatric Endocrinology, Charité, University Medicine Berlin, Berlin, Germany., Tripto-Shkolnik L; Division of Endocrinology, Diabetes and Metabolism, Chaim Sheba Medical Center, Tel Hashomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Liu J; Kyowa Kirin International, Marlow, UK., Williams A; Kyowa Kirin International, Marlow, UK., Wood S; Kyowa Kirin International, Marlow, UK., Zillikens MC; Bone Center, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 27; Vol. 18 (1), pp. 304. Date of Electronic Publication: 2023 Sep 27. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-023-02882-4 |
