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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.
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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  Data: The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
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  Data: <searchLink fieldCode="AU" term="%22Ariceta+G%22">Ariceta G</searchLink>; Department of Pediatric Nephrology, Hospital Vall d'Hebron, Universitat Autonoma Barcelona, Barcelona, Spain. gema.ariceta@vallhebron.cat.<br /><searchLink fieldCode="AU" term="%22Beck-Nielsen+SS%22">Beck-Nielsen SS</searchLink>; Centre for Rare Diseases, Aarhus University Hospital, Åarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Åarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Boot+AM%22">Boot AM</searchLink>; Department of Pediatrics, Division of Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brandi+ML%22">Brandi ML</searchLink>; FIRMO Foundation, Florence, Italy.; Donatello Bone Clinic, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Briot+K%22">Briot K</searchLink>; Hôpital Cochin, Service de Rhumatologie, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate Filière OSCAR, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Lucas+Collantes+C%22">de Lucas Collantes C</searchLink>; Universidad Autónoma de Madrid, Madrid, Spain.; Hospital Infantili Niño Jesús, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Emma+F%22">Emma F</searchLink>; Division of Nephrology, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Giannini+S%22">Giannini S</searchLink>; Department of Medicine, Clinica Medica 1, University of Padova, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Haffner+D%22">Haffner D</searchLink>; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Keen+R%22">Keen R</searchLink>; Royal National Orthopaedic Hospital, Stanmore, UK.<br /><searchLink fieldCode="AU" term="%22Levtchenko+E%22">Levtchenko E</searchLink>; Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, University of Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Mäkitie+O%22">Mäkitie O</searchLink>; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Mughal+MZ%22">Mughal MZ</searchLink>; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Nilsson+O%22">Nilsson O</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schnabel+D%22">Schnabel D</searchLink>; Center for Chronically Sick Children, Pediatric Endocrinology, Charité, University Medicine Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Tripto-Shkolnik+L%22">Tripto-Shkolnik L</searchLink>; Division of Endocrinology, Diabetes and Metabolism, Chaim Sheba Medical Center, Tel Hashomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Liu+J%22">Liu J</searchLink>; Kyowa Kirin International, Marlow, UK.<br /><searchLink fieldCode="AU" term="%22Williams+A%22">Williams A</searchLink>; Kyowa Kirin International, Marlow, UK.<br /><searchLink fieldCode="AU" term="%22Wood+S%22">Wood S</searchLink>; Kyowa Kirin International, Marlow, UK.<br /><searchLink fieldCode="AU" term="%22Zillikens+MC%22">Zillikens MC</searchLink>; Bone Center, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2023 Sep 27; Vol. 18 (1), pp. 304. <i>Date of Electronic Publication: </i>2023 Sep 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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