المؤلفون: Boros E; Pediatric Endocrinology Unit, Hôpital Universitaire de Bruxelles (HUB), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels 1020, Belgium., Ertl DA; AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filiere OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicetre Paris-Saclay Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France., Berkenou J; AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filiere OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicetre Paris-Saclay Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France., Audrain C; AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filiere OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicetre Paris-Saclay Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France., Lecoq AL; AP-HP, Centre de Recherche Clinique Paris Saclay, Hôpital Bicêtre, Le Kremlin-Bicêtre 94270, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, 78 rue du Général Leclerc, Le Kremlin-Bicêtre 94270, France., Kamenicky P; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, 78 rue du Général Leclerc, Le Kremlin-Bicêtre 94270, France.; Physiologie et Physiopathologie Endocriniennes, Université Paris-Saclay, Inserm, Le Kremlin-Bicêtre 94276, France., Briot K; Rheumatology Department, Université Paris-Cité, Cochin Hospital, Paris 75014, France., Amouroux C; Service de Néphrologie et Endocrinologie Pédiatriques, CHU de Montpellier, Montpellier 34090, France.; Faculté de Médecine, Université de Montpellier, Montpellier 34090, France.; Centres Maladies Rares Métabolisme du Calcium et du Phosphore et Maladies Osseuses Constitutionnelles, Filière de Santé Maladies Rares OSCAR, 34090 Montpellier, France., Zhukouskaya V; AP-HP, Department of Endocrinology, Hôpital Cochin, Paris 75014, France.; Institut des Maladies Musculo-squelettiques, Laboratory Orofacial Pathologies, Imaging and Biotherapies URP2496 and FHU-DDS-Net, Dental School, and Plateforme d'Imagerie du Vivant (PIV), Université Paris Cité, Montrouge 92129, France.; Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Plateforme d'Expertise Maladies Rares Paris Saclay, Filière OSCAR, EndoRare and BOND ERN, Hôpital de Bicêtre, Le Kremlin-Bicêtre 94270, France., Gueorguieva I; Pediatric Endocrine Unit, CHU Lille, Université Lille, Lille 59800, France., Mignot B; Service de Médecine Pédiatrique, CHRU J Minjoz, 3 Boulevard Fleming, Besançon 25030, France., Girerd B; AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filiere OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicetre Paris-Saclay Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France., Porquet Bordes V; Endocrine, Bone Diseases and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, Competence Centre for Bone Diseases, ERN BOND, OSCAR Network, Children's Hospital, Toulouse University Hospital, Toulouse 31059, France., Salles JP; Unité d'Endocrinologie, Maladies Osseuses, Hôpital des Enfants, Centre de Référence des Maladies Rares du Calcium et du Phosphate, ENR BOND, Hôpital des Enfants, CHU de Toulouse, TSA 70034, Toulouse 31059, France.; INFINITY CENTER, INSERM CNRS UMR 1291, Université de Toulouse, Paul Sabatier Toulouse III, Hôpital Purpan, Toulouse 31024, France., Edouard T; Endocrine, Bone Diseases and Genetics Unit, Toulouse University Hospital, Toulouse 31059, France., Coutant R; Unité d' Endocrinologie Diabetologie Pédiatrique and Centre des Maladies Rares de la Réceptivité Hormonale, CHU-Angers, Angers 49055, France., Bacchetta J; Centre de Référence des Maladies Rénales Rares, Centre de Référence des Maladies Rares du Calcium et du Phosphore, Filières Santé Maladies Rares OSCAR et ORKID, Filières Santé ERKNet et BOND, INSERM1033, Université de Lyon, Lyon 69372, France., Linglart A; AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filiere OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicetre Paris-Saclay Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.; Physiologie et Physiopathologie Endocriniennes, Université Paris-Saclay, Inserm, Le Kremlin-Bicêtre 94276, France., Rothenbuhler A; AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filiere OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicetre Paris-Saclay Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2023 Oct 17; Vol. 189 (4), pp. 469-475.

نوع المنشور: Observational Study; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*/genetics , Hypophosphatemia*/genetics, Humans ; Male ; Female ; Adult ; Cohort Studies ; Body Height ; Retrospective Studies ; PHEX Phosphate Regulating Neutral Endopeptidase

المؤلفون: Méaux MN; CHU de Bordeaux, Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Rares Sorare, 33 000 Bordeaux, France.; CHU de Lyon, Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, 69 500 Bron, France.; INSERM, UMR 1033, Faculté de Médecine Lyon Est, Université Claude Bernard Lyon 1, 69 008 Lyon, France., Harambat J; CHU de Bordeaux, Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Rares Sorare, 33 000 Bordeaux, France., Rothenbuhler A; Centre de Référence des Maladies Rares du Calcium et du Phosphate, filière OSCAR, France.; Assistance Publique-Hôpitaux de Paris, Université Paris Saclay, INSERM, Service d'Endocrinologie et Diabète de l'enfant, Unité Physiologie et Physiopathologie Endocrinienne, Hôpital Bicêtre Paris Saclay, 94270 Le Kremlin-Bicêtre, France., Léger J; Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Robert Debré, Endocrinologie Diabétologie Pédiatrique, 75 019 Paris, France., Kamenicky P; Assistance Publique-Hôpitaux de Paris, Hôpital Kremlin Bicêtre, Service d'Endocrinologie et de Biologie de la Reproduction, 94270 Le Kremlin-Bicêtre, France., Soskin S; CHU de Strasbourg, Service d'Endocrinologie Pédiatrique, 69 091 Strasbourg, France., Boyer O; Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, CRMR MARHEA, Institut Imagine, Université Paris Cité, 75015 Paris, France., Boros E; Hôpital Universitaire des enfants Reine Fabiola, Service d'Endocrinologie Pédiatrique, 1020 Bruxelles, Belgique., D'Anella P; Endocrinologie Libérale, 84000 Avignon, France., Mignot B; CHU de Besançon, Service d'Endocrinologie Pédiatrique, 25000 Besançon, France., Gebhart M; CHU de Besançon, Service d'Endocrinologie Pédiatrique, 25000 Besançon, France., Vic P; CH de Cornouailles, Service de Pédiatrie, 29000 Quimper, France., Richard N; CHU de Caen, Service de Génétique, EA7450 Biotargen, 14033 Caen, France., Thivichon-Prince B; CHU de Lyon, Service d'odontologie, 69003 Lyon, France., Francou B; Assistance Publique-Hôpitaux de Paris, Hôpital Kremlin-Bicêtre, Laboratoire de génétique moléculaire, 94270 Le Kremlin-Bicêtre, France., Linglart A; Centre de Référence des Maladies Rares du Calcium et du Phosphate, filière OSCAR, France.; Assistance Publique-Hôpitaux de Paris, Université Paris Saclay, INSERM, Service d'Endocrinologie et Diabète de l'enfant, Unité Physiologie et Physiopathologie Endocrinienne, Hôpital Bicêtre Paris Saclay, 94270 Le Kremlin-Bicêtre, France., Bacchetta J; CHU de Lyon, Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, 69 500 Bron, France.; INSERM, UMR 1033, Faculté de Médecine Lyon Est, Université Claude Bernard Lyon 1, 69 008 Lyon, France.; Centre de Référence des Maladies Rares du Calcium et du Phosphate, filière OSCAR, France.; Centre de Référence des Maladies Rénales Rares Néphrogones, filière ORKID, France., Molin A; Centre de Référence des Maladies Rares du Calcium et du Phosphate, filière OSCAR, France.; CHU de Caen, Service de Génétique, EA7450 Biotargen, 14033 Caen, France.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2023 Mar 10; Vol. 108 (4), pp. 812-826.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Rickets*/genetics , Familial Hypophosphatemic Rickets*/diagnosis, Humans ; 25-Hydroxyvitamin D3 1-alpha-Hydroxylase/genetics ; Alkaline Phosphatase/genetics ; Alkaline Phosphatase/therapeutic use ; Retrospective Studies ; Vitamin D/therapeutic use ; Phenotype ; Genotype

SCR Disease Name: Vitamin D Hydroxylation-Deficient Rickets, Type 1A

المؤلفون: Kamenicky P; Service d'Endocrinologie et des Maladies de la Reproduction, Hôpital Bicêtre, Paris, France peter.kamenicky@aphp.fr., Briot K; Service de Rhumatologie, Hôpital Cochin, Paris, France., Brandi ML; F.I.R.M.O. Foundation, Florence, Italy., Cohen-Solal M; INSERM U1132 BIOSCAR, Service de Rhumatologie, Hôpital Lariboisiere, Université de Paris, Paris, France., Crowley RK; Rare Disease Clinical Trial Network, University College Dublin School of Medicine, Dublin, Ireland.; Department of Endocrinology, St Vincent's University Hospital, Dublin, Ireland., Keen R; Metabolic Bone Disease Unit, Royal National Orthopaedic Hospital, Stanmore, UK., Kolta S; INSERM U1153, Service de Rhumatologie, Hôpital Cochin, Paris, France., Lachmann RH; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Lecoq AL; Physiologie et Physiopathologie Endocriniennes, Assistance Publique - Hôpitaux de Paris, Paris, France.; Service d'Endocrinologie et des Maladies de la Reproduction, Hôpital Bicêtre, Paris, France., Ralston SH; Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Walsh JS; Department of Oncology and Metabolism, The University of Sheffield, Sheffield, UK., Rylands AJ; Health Economics and Outcomes Research Department, Kyowa Kirin International PLC, Marlow, UK., Williams A; Health Economics and Outcomes Research Department, Kyowa Kirin International PLC, Marlow, UK., Sun W; Biostatistics Department, Kyowa Kirin Pharmaceutical Development, Inc, Princeton, New Jersey, USA., Nixon A; Chilli Consultancy, Salisbury, UK., Nixon M; Chilli Consultancy, Salisbury, UK., Javaid MK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.

المصدر: RMD open [RMD Open] 2023 Feb; Vol. 9 (1).

نوع المنشور: Clinical Trial, Phase III; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 101662038 Publication Model: Print Cited Medium: Internet ISSN: 2056-5933 (Electronic) Linking ISSN: 20565933 NLM ISO Abbreviation: RMD Open Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*/drug therapy, Adult ; Humans ; Antibodies, Monoclonal, Humanized/therapeutic use ; Pain ; Phosphates

المؤلفون: Brandi ML; FIRMO Foundation, Via San Gallo 123, 50100, Florence, Italy. marialuisa@marialuisabrandi.it., Jan de Beur S; Division of Endocrinology and Metabolism, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Briot K; Department of Rheumatology, Cochin Hospital, Paris University, Paris, France., Carpenter T; Department of Pediatrics and Department of Orthopedics and Rehabilitation, Yale School of Medicine, New Haven, CT, USA., Cheong HI; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea., Cohen-Solal M; Department of Rheumatology, Lariboisière Hospital, INSERM U1132 BIOSCAR, and University of Paris, Paris, France., Crowley RK; Department of Endocrinology, St Vincent's University Hospital, and University College Dublin School of Medicine and Medical Science, Dublin, Ireland., Eastell R; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK., Imanishi Y; Department of Metabolism, Endocrinology and Molecular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan., Imel EA; Department of Medicine and Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA., Ing SW; Division of Endocrinology, Diabetes, and Metabolism, Ohio State University Wexner Medical Center, Columbus, OH, USA., Insogna K; Department of Internal Medicine, Yale School of Medicine, New Haven, CT, USA., Ito N; Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan., Javaid K; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Kamenicky P; Endocrine Physiology and Pathophysiology, INSERM, Paris-Saclay University, and Bicêtre Hospital, Paris, France., Keen R; Metabolic Bone Disease Unit, Royal National Orthopaedic Hospital NHS Trust, London, UK., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Lachmann RH; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK., Perwad F; Division of Nephrology, Department of Pediatrics, University of California San Francisco, San Francisco, USA., Pitukcheewanont P; Department of Pediatric Endocrinology, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, USA., Portale A; Division of Nephrology, Department of Pediatrics, University of California San Francisco, San Francisco, USA., Ralston SH; Rheumatology and Bone Diseases Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Tanaka H; Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan., Weber TJ; Division of Endocrinology, Metabolism and Nutrition, Department of Medicine, Duke University Medical Center, Durham, NC, USA., Yoo HW; Department of Pediatrics, Asan Medical Center Children's Hospital, Seoul, Republic of Korea., Sun W; Biostatistics Department, Kyowa Kirin Pharmaceutical Development, Inc., Princeton, NJ, USA., Williams A; Kyowa Kirin International, Marlow, UK., Nixon A; Chilli Consultancy, Salisbury, UK., Takeuchi Y; Endocrine Center, Toranomon Hospital, Tokyo, Japan.

المصدر: Calcified tissue international [Calcif Tissue Int] 2022 Oct; Vol. 111 (4), pp. 409-418. Date of Electronic Publication: 2022 Aug 04.

نوع المنشور: Clinical Trial, Phase III; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*/drug therapy, Adult ; Antibodies, Monoclonal, Humanized/therapeutic use ; Double-Blind Method ; Humans ; Pain ; Treatment Outcome

المؤلفون: Bacchetta J; Reference Center for Rare Renal Diseases, Department of Pediatric Nephrology, Rheumatology and Dermatology, Nephrogones, Filière ORKiD, HFME, Lyon University Hospital, Lyon, France; Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, Filière OSCAR, HFME, Lyon University Hospital, Lyon, France., Rothenbuhler A; AP-HP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France; AP-HP, Endocrinology and Diabetes for Children, Bicêtre Paris-Sud Hospital, Le Kremlin-Bicêtre, France., Gueorguieva I; Pediatric Department, Endocrinology Unit, Children's Center, Lille University Hospital, Jeanne-de-Flandre Hospital, Lille, France., Kamenicky P; AP-HP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France; AP-HP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris-Sud Hospital, Paris, France., Salles JP; Unit of Endocrinology, Bone Diseases, Genetics and Gynecology, Children's Hospital, Toulouse University Hospital, 31059 Toulouse cedex 09, France; Toulouse-Purpan Pathophysiology Center, CPTP, INSERM UMR 1043, Paul-Sabatier University, Toulouse, France., Briot K; AP-HP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France; AP-HP, Department of Rheumatology, Cochin Hospital, Paris, France., Linglart A; AP-HP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France; AP-HP, Endocrinology and Diabetes for Children, Bicêtre Paris-Sud Hospital, Le Kremlin-Bicêtre, France. Electronic address: agnes.linglart@aphp.fr.

المصدر: Joint bone spine [Joint Bone Spine] 2021 Oct; Vol. 88 (5), pp. 105208. Date of Electronic Publication: 2021 Jun 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Editions Elsevier Country of Publication: France NLM ID: 100938016 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1778-7254 (Electronic) Linking ISSN: 1297319X NLM ISO Abbreviation: Joint Bone Spine Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*/diagnosis , Familial Hypophosphatemic Rickets*/drug therapy , Familial Hypophosphatemic Rickets*/genetics , Hypophosphatemia*, Adolescent ; Adult ; Antibodies, Monoclonal ; Antibodies, Monoclonal, Humanized ; Child ; Fibroblast Growth Factor-23 ; Fibroblast Growth Factors ; Humans ; Phosphates

المؤلفون: Briot K; Department of Rheumatology, Hôpital Cochin, Paris, France karine.briot@aphp.fr., Portale AA; Department of Pediatrics, Division of Nephrology, University of California, San Francisco, California, USA., Brandi ML; FIRMO Foundation, Florence, Italy., Carpenter TO; Department of Pediatrics and Department of Orthopedics and Rehabilitation, Yale School of Medicine, New Haven, Connecticut, USA., Cheong HI; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea., Cohen-Solal M; Department of Rheumatology, Hôpital Lariboisière, Paris, France.; INSERM U1132 BIOSCAR, University of Paris, Paris, France., Crowley RK; Department of Endocrinology, St Vincent's University Hospital, Dublin, Ireland.; University College Dublin School of Medicine, Dublin, Ireland., Eastell R; Department of Oncology and Metabolism, The University of Sheffield, Sheffield, UK., Imanishi Y; Department of Metabolism, Endocrinology and Molecular Medicine, Osaka City University Graduate School of Medicine, Osaka, Japan., Ing S; Division of Endocrinology, Diabetes, and Metabolism, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Insogna K; Department of Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA., Ito N; Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan., Jan de Beur S; Division of Endocrinology and Metabolism, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Javaid MK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Kamenicky P; Endocrine Physiology and Pathophysiology, INSERM, Paris-Saclay University, Paris, France.; Hospital Bicetre, Paris, France., Keen R; Metabolic Bone Disease Unit, Royal National Orthopaedic Hospital NHS Trust, London, UK., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Lachmann RH; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Perwad F; Department of Pediatrics, Division of Nephrology, University of California, San Francisco, California, USA., Pitukcheewanont P; Department of Pediatric Endocrinology, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California, USA., Ralston SH; Rheumatology and Bone Diseases Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Takeuchi Y; Endocrine Center, Toranomon Hospital, Tokyo, Japan., Tanaka H; Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan., Weber TJ; Division of Endocrinology, Metabolism and Nutrition, Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA., Yoo HW; Department of Pediatrics, Asan Medical Center Children's Hospital, Seoul, Republic of Korea., Nixon A; Chilli Consultancy, Salisbury, UK., Nixon M; Chilli Consultancy, Salisbury, UK., Sun W; Biostatistics Department, Kyowa Kirin Pharmaceutical Development, Inc, Princeton, New Jersey, USA., Williams A; Health Economics and Outcomes Research Department, Kyowa Kirin International PLC, Marlow, UK., Imel EA; Department of Medicine and Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

المصدر: RMD open [RMD Open] 2021 Sep; Vol. 7 (3).

نوع المنشور: Clinical Trial, Phase III; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 101662038 Publication Model: Print Cited Medium: Internet ISSN: 2056-5933 (Electronic) Linking ISSN: 20565933 NLM ISO Abbreviation: RMD Open Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*, Adult ; Antibodies, Monoclonal ; Antibodies, Monoclonal, Humanized ; Humans ; Patient Reported Outcome Measures

المؤلفون: Portale AA; University of California San Francisco, San Francisco, CA, USA. aportale@ucsf.edu., Carpenter TO; Yale University School of Medicine, New Haven, CT, USA., Brandi ML; Azienda Ospedaliero Universitaria Careggi - CTO, Florence, Italy., Briot K; CHU Paris Centre, Paris, France., Cheong HI; Seoul National University Children's Hospital, Seoul, Korea., Cohen-Solal M; Hôpital Lariboisière, Paris, France., Crowley R; St Vincent's University Hospital Elm Park, Dublin, Ireland., Jan De Beur S; Johns Hopkins University School of Medicine, Baltimore, MD, USA., Eastell R; University of Sheffield, Sheffield, UK., Imanishi Y; Osaka City University Graduate School of Medicine, Osaka, Japan., Imel EA; Indiana University Department of Medicine, Indianapolis, IN, USA., Ing S; The Ohio State University Wexner Medical Center, Columbus, OH, USA., Ito N; The University of Tokyo Hospital, Tokyo, Japan., Javaid M; University of Oxford, Oxford, UK., Kamenicky P; CHU de Bicêtre, Le Kremlin-Bicêtre, France., Keen R; Royal National Orthopaedic Hospital, Stanmore, UK., Kubota T; Osaka University Hospital, Osaka, Japan., Lachmann R; University College of London Hospital, London, UK., Perwad F; University of California San Francisco, San Francisco, CA, USA., Pitukcheewanont P; Children's Hospital of Los Angeles, Los Angeles, CA, USA.; Ascendis Pharma, Palo Alto, CA, USA., Ralston SH; University of Edinburgh, Edinburgh, UK., Takeuchi Y; Toranomon Hospital, Tokyo, Japan., Tanaka H; Okayama Saiseikai General Hospital, Okayama, Japan., Weber TJ; Duke University Medical Center, Durham, NC, USA., Yoo HW; Asan Medical Center, Seoul, Korea., Zhang L; Ultragenyx Pharmaceutical Inc., Novato, CA, USA., Theodore-Oklota C; Ultragenyx Pharmaceutical Inc., Novato, CA, USA., Mealiffe M; Ultragenyx Pharmaceutical Inc., Novato, CA, USA.; MyoKardia, South San Francisco, CA, USA., San Martin J; Ultragenyx Pharmaceutical Inc., Novato, CA, USA., Insogna K; Yale University School of Medicine, New Haven, CT, USA.

المصدر: Calcified tissue international [Calcif Tissue Int] 2019 Sep; Vol. 105 (3), pp. 271-284. Date of Electronic Publication: 2019 Jun 04.

نوع المنشور: Clinical Trial, Phase III; Journal Article; Multicenter Study; Randomized Controlled Trial

بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

مواضيع طبية MeSH: Maintenance Chemotherapy*, Antibodies, Monoclonal/*administration & dosage , Familial Hypophosphatemic Rickets/*drug therapy, Adolescent ; Adult ; Aged ; Antibodies, Monoclonal/adverse effects ; Antibodies, Monoclonal, Humanized ; Double-Blind Method ; Drug Administration Schedule ; Female ; Fibroblast Growth Factor-23 ; Humans ; Male ; Middle Aged ; Placebos ; Treatment Outcome ; Young Adult

المؤلفون: Haffner D; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany. Haffner.Dieter@mh-hannover.de.; Center for Congenital Kidney Diseases, Center for Rare Diseases, Hannover Medical School, Hannover, Germany. Haffner.Dieter@mh-hannover.de., Emma F; Department of Pediatric Subspecialties, Division of Nephrology, Children's Hospital Bambino Gesù - IRCCS, Rome, Italy., Eastwood DM; Department of Orthopaedics, Great Ormond St Hospital for Children, Orthopaedics, London, UK.; The Catterall Unit Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK., Duplan MB; Dental School, Université Paris Descartes Sorbonne Paris Cité, Montrouge, France.; APHP, Department of Odontology, Bretonneau Hospital, Paris, France.; APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France., Bacchetta J; Department of Pediatric Nephrology, Rheumatology and Dermatology, University Children's Hospital, Lyon, France., Schnabel D; Center for Chronic Sick Children, Pediatric Endocrinology, Charitè, University Medicine, Berlin, Germany., Wicart P; APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France.; APHP, Department of Pediatric Orthopedic Surgery, Necker - Enfants Malades University Hospital, Paris, France.; Paris Descartes University, Paris, France., Bockenhauer D; University College London, Centre for Nephrology and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Santos F; Hospital Universitario Central de Asturias (HUCA), University of Oviedo, Oviedo, Spain., Levtchenko E; Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, University of Leuven, Leuven, Belgium., Harvengt P; RVRH-XLH, French Patient Association for XLH, Suresnes, France., Kirchhoff M; Phosphatdiabetes e.V., German Patient Association for XLH, Lippstadt, Germany., Di Rocco F; Pediatric Neurosurgery, Hôpital Femme Mère Enfant, Centre de Référence Craniosténoses, Université de Lyon, Lyon, France., Chaussain C; Dental School, Université Paris Descartes Sorbonne Paris Cité, Montrouge, France.; APHP, Department of Odontology, Bretonneau Hospital, Paris, France.; APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France., Brandi ML; Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy., Savendahl L; Pediatric Endocrinology Unit, Karolinska University Hospital, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Briot K; APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France.; Paris Descartes University, Paris, France.; APHP, Department of Rheumatology, Cochin Hospital, Paris, France.; INSERM UMR-1153, Paris, France., Kamenicky P; APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France.; APHP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris-Sud Hospital, Paris, France.; INSERM U1185, Bicêtre Paris-Sud, Paris-Sud - Paris Saclay University, Le Kremlin-Bicêtre, France., Rejnmark L; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark., Linglart A; APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France.; INSERM U1185, Bicêtre Paris-Sud, Paris-Sud - Paris Saclay University, Le Kremlin-Bicêtre, France.; APHP, Platform of Expertise of Paris-Sud for Rare Diseases and Filière OSCAR, Bicêtre Paris-Sud Hospital (HUPS), Le Kremlin-Bicêtre, France.; APHP, Endocrinology and Diabetes for Children, Bicêtre Paris-Sud Hospital, Le Kremlin-Bicêtre, France.

المصدر: Nature reviews. Nephrology [Nat Rev Nephrol] 2019 Jul; Vol. 15 (7), pp. 435-455.

نوع المنشور: Consensus Development Conference; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500081 Publication Model: Print Cited Medium: Internet ISSN: 1759-507X (Electronic) Linking ISSN: 17595061 NLM ISO Abbreviation: Nat Rev Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets/*diagnosis , Familial Hypophosphatemic Rickets/*therapy, Algorithms ; Antibodies, Monoclonal/therapeutic use ; Antibodies, Monoclonal, Humanized ; Arnold-Chiari Malformation/etiology ; Biomarkers/blood ; Bone Density Conservation Agents/therapeutic use ; Bone and Bones/diagnostic imaging ; Continuity of Patient Care ; Craniosynostoses/prevention & control ; Delphi Technique ; Dental Care ; Fibroblast Growth Factor-23 ; Growth Hormone/therapeutic use ; Hearing Loss/etiology ; Hearing Loss/prevention & control ; Humans ; Immunologic Factors/therapeutic use ; Life Style ; Mutation ; Orthopedic Procedures ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics ; Phosphates/therapeutic use ; Physical Therapy Modalities ; Radiography ; Vitamin D/therapeutic use

المؤلفون: Biosse Duplan M; 1 Service d'Odontologie, Hôpital Bretonneau, HUPNVS, AP-HP, Paris, France.; 2 Faculté de Chirurgie Dentaire, Université Paris Descartes, Montrouge, France.; 3 Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Plateforme d'expertise Paris Sud Maladies rares, filière OSCAR, Hôpital Bicêtre-Paris Sud, AP-HP, Le Kremlin Bicêtre, France., Coyac BR; 4 EA 2496, Faculté de Chirurgie Dentaire, Université Paris Descartes, Montrouge, France., Bardet C; 4 EA 2496, Faculté de Chirurgie Dentaire, Université Paris Descartes, Montrouge, France., Zadikian C; 1 Service d'Odontologie, Hôpital Bretonneau, HUPNVS, AP-HP, Paris, France.; 2 Faculté de Chirurgie Dentaire, Université Paris Descartes, Montrouge, France., Rothenbuhler A; 3 Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Plateforme d'expertise Paris Sud Maladies rares, filière OSCAR, Hôpital Bicêtre-Paris Sud, AP-HP, Le Kremlin Bicêtre, France.; 5 Service d'endocrinologie, Hôpital Bicêtre, HUPS, AP-HP, Le Kremlin Bicêtre, France., Kamenicky P; 3 Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Plateforme d'expertise Paris Sud Maladies rares, filière OSCAR, Hôpital Bicêtre-Paris Sud, AP-HP, Le Kremlin Bicêtre, France.; 5 Service d'endocrinologie, Hôpital Bicêtre, HUPS, AP-HP, Le Kremlin Bicêtre, France., Briot K; 3 Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Plateforme d'expertise Paris Sud Maladies rares, filière OSCAR, Hôpital Bicêtre-Paris Sud, AP-HP, Le Kremlin Bicêtre, France.; 6 Service de Rhumatologie, Hôpital Cochin, HUPC, AP-HP, Paris, France., Linglart A; 3 Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Plateforme d'expertise Paris Sud Maladies rares, filière OSCAR, Hôpital Bicêtre-Paris Sud, AP-HP, Le Kremlin Bicêtre, France.; 5 Service d'endocrinologie, Hôpital Bicêtre, HUPS, AP-HP, Le Kremlin Bicêtre, France., Chaussain C; 1 Service d'Odontologie, Hôpital Bretonneau, HUPNVS, AP-HP, Paris, France.; 3 Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Plateforme d'expertise Paris Sud Maladies rares, filière OSCAR, Hôpital Bicêtre-Paris Sud, AP-HP, Le Kremlin Bicêtre, France.; 4 EA 2496, Faculté de Chirurgie Dentaire, Université Paris Descartes, Montrouge, France.

المصدر: Journal of dental research [J Dent Res] 2017 Apr; Vol. 96 (4), pp. 388-395. Date of Electronic Publication: 2016 Nov 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Country of Publication: United States NLM ID: 0354343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1544-0591 (Electronic) Linking ISSN: 00220345 NLM ISO Abbreviation: J Dent Res Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets/*complications , Familial Hypophosphatemic Rickets/*drug therapy , Periodontitis/*prevention & control , Phosphates/*therapeutic use , Vitamin D/*therapeutic use, Adult ; Case-Control Studies ; Familial Hypophosphatemic Rickets/diagnostic imaging ; Female ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Periodontitis/diagnostic imaging ; Prospective Studies ; Radiography, Panoramic ; Treatment Outcome

المؤلفون: Che H; Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France., Roux C; Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France., Etcheto A; Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France., Rothenbuhler A; Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France., Kamenicky P; Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France., Linglart A; Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France., Briot K; Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France karine.briot@aphp.fr.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2016 Mar; Vol. 174 (3), pp. 325-33.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Quality of Life*, Familial Hypophosphatemic Rickets/*physiopathology , Fractures, Bone/*physiopathology , Genetic Diseases, X-Linked/*physiopathology , Osteoarthritis/*physiopathology , Spondylarthritis/*physiopathology, Adult ; Case-Control Studies ; Cohort Studies ; Familial Hypophosphatemic Rickets/diagnostic imaging ; Familial Hypophosphatemic Rickets/epidemiology ; Female ; Fractures, Bone/diagnostic imaging ; Fractures, Bone/epidemiology ; Genetic Diseases, X-Linked/diagnostic imaging ; Genetic Diseases, X-Linked/epidemiology ; Humans ; Male ; Middle Aged ; Osteoarthritis/diagnostic imaging ; Osteoarthritis/epidemiology ; Osteoarthritis, Hip/diagnostic imaging ; Osteoarthritis, Hip/epidemiology ; Osteoarthritis, Hip/physiopathology ; Osteoarthritis, Knee/diagnostic imaging ; Osteoarthritis, Knee/epidemiology ; Osteoarthritis, Knee/physiopathology ; Osteoarthritis, Spine/diagnostic imaging ; Osteoarthritis, Spine/epidemiology ; Osteoarthritis, Spine/physiopathology ; Prospective Studies ; Radiography ; Rheumatic Diseases/diagnostic imaging ; Rheumatic Diseases/epidemiology ; Spondylarthritis/diagnostic imaging ; Spondylarthritis/epidemiology ; Spondylarthropathies/diagnostic imaging ; Spondylarthropathies/epidemiology ; Spondylarthropathies/physiopathology