Zobrazeno 1 - 10
of 1 729
pro vyhledávání: '"Familial Hypophosphatemic Rickets"'
Autor:
Ma X; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China., Pang Q; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China., Gong Y; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China., Li X; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China., Liu W; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China., Jiang Y; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China., Wang O; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China., Li M; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China., Xing X; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China., Xia W; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Nov 18; Vol. 109 (12), pp. 3176-3185.
Autor:
Mehta K; Kyowa Kirin Inc., Princeton, New Jersey, USA., Gosselin NH; Certara Strategic Consulting, Princeton, New Jersey, USA., Insogna K; Yale University School of Medicine, New Haven, Connecticut, USA., Barriere O; Certara Strategic Consulting, Princeton, New Jersey, USA., Quattrocchi E; Kyowa Kirin Pharmaceutical Development Ltd, Marlow, UK., Hruska MW; Kyowa Kirin Inc., Princeton, New Jersey, USA., Marsteller D; Kyowa Kirin Inc., Princeton, New Jersey, USA.
Publikováno v:
Clinical pharmacology and therapeutics [Clin Pharmacol Ther] 2024 Nov; Vol. 116 (5), pp. 1343-1351. Date of Electronic Publication: 2024 Aug 12.
Autor:
Orlando G; Research Centre for Musculoskeletal Science & Sports Medicine, Department of Life Sciences, Manchester Metropolitan University, Manchester, UK., Roy M; Department of Rheumatology, University Hospitals Bristol, Bristol, UK., Bubbear J; Metabolic Bone Disease Centre, Royal National Orthopaedic Hospital, Stanmore, UK., Clarke S; Department of Rheumatology, University Hospitals Bristol, Bristol, UK., Keen R; Metabolic Bone Disease Centre, Royal National Orthopaedic Hospital, Stanmore, UK., Javaid MK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK., Ireland A; Research Centre for Musculoskeletal Science & Sports Medicine, Department of Life Sciences, Manchester Metropolitan University, Manchester, UK. a.ireland@mmu.ac.uk.
Publikováno v:
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA [Osteoporos Int] 2024 Nov; Vol. 35 (11), pp. 2055-2060. Date of Electronic Publication: 2024 Jul 19.
Autor:
Wang LK; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA., Shanmugasundaram M; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA., Cooney E; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA., Lee PDK; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63780. Date of Electronic Publication: 2024 Jun 01.
Autor:
Funck-Brentano T; BIOSCAR UMRS 1132, INSERM, Université Paris Cité, F-75475 Paris, France; Assistance Publique des Hôpitaux de Paris, Lariboisière Hospital, DMU Locomotion, Department of Rheumatology, F-75475 Paris, France; National Reference Center For Rare Bone Diseases, Lariboisière Hospital, APHP.Nord, Filière OSCAR, F-75475 Paris, France. Electronic address: thomas.funck-brentano@aphp.fr., Vanjak A; BIOSCAR UMRS 1132, INSERM, Université Paris Cité, F-75475 Paris, France; Assistance Publique des Hôpitaux de Paris, Lariboisière Hospital, DMU Locomotion, Department of Rheumatology, F-75475 Paris, France; National Reference Center For Rare Bone Diseases, Lariboisière Hospital, APHP.Nord, Filière OSCAR, F-75475 Paris, France. Electronic address: arnaud.vanjak@aphp.fr., Ostertag A; BIOSCAR UMRS 1132, INSERM, Université Paris Cité, F-75475 Paris, France., Nethander M; Center for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, Gothenburg University, Sweden., Fernandez S; Assistance Publique des Hôpitaux de Paris, Lariboisière Hospital, DMU Locomotion, Department of Rheumatology, F-75475 Paris, France., Collet C; Imagine Institut, Necker Hospital, Université Paris Cité, F-75475 Paris, France., Hans D; Center of Bone Diseases, Bone & Joint Department, Lausanne University Hospital, Lausanne, Switzerland., van Rietbergen B; Department of Biomedical Engineering, Eindhoven University of Technology, Eindhoven, the Netherlands., Cohen-Solal M; BIOSCAR UMRS 1132, INSERM, Université Paris Cité, F-75475 Paris, France; Assistance Publique des Hôpitaux de Paris, Lariboisière Hospital, DMU Locomotion, Department of Rheumatology, F-75475 Paris, France; National Reference Center For Rare Bone Diseases, Lariboisière Hospital, APHP.Nord, Filière OSCAR, F-75475 Paris, France.
Publikováno v:
Bone [Bone] 2024 Oct; Vol. 187, pp. 117179. Date of Electronic Publication: 2024 Jul 01.
Autor:
Portale AA; Division of Pediatric Nephrology, University of California San Francisco Benioff Children's Hospital, San Francisco, CA 94158, United States., Ward L; Department of Pediatrics, University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, Ontario, ON K1H 8L1, Canada., Dahir K; Vanderbilt University Medical Center, Nashville, TN 37232, United States., Florenzano P; Department of Endocrinology, Faculty of Medicine, Pontificia Universidad Católica de Chile and Centro UC Traslacional en Endocrinología, CETREN-UC, 8320165 Santiago, Chile., Ing SW; Division of Endocrinology, Diabetes, and Metabolism, Ohio State University Wexner Medical Center, Columbus, OH 43210, United States., Jan de Beur SM; Division of Endocrinology and Metabolism, Department of Medicine, University of Virginia School of Medicine, Charlotteville, VA 22903, United States., Martin RM; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo 05403-010, Brazil., Meza-Martinez AI; Hospital Infantil Universitario de San José, 111221 Bogota DC, Colombia., Paloian N; University of Wisconsin School of Medicine and Public Health, Madison, WI 53726, United States., Ashraf A; University of Alabama at Birmingham, Birmingham, AL 35294, United States., Dixon BP; Renal Section, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, United States., Khan A; McMaster University, Hamilton, Ontario L8S 4L8, Canada., Langman C; Emeritus Professor of Pediatrics, Northwestern Feinberg School of Medicine, Chicago, IL 60611, United States., Chen A; Ultragenyx Pharmaceutical Inc., Novato, CA 94949, United States., Wang C; Ultragenyx Pharmaceutical Inc., Novato, CA 94949, United States., Roberts MS; Ultragenyx Pharmaceutical Inc., Novato, CA 94949, United States., Tandon PK; Ultragenyx Pharmaceutical Inc., Novato, CA 94949, United States., Bedrosian C; Ultragenyx Pharmaceutical Inc., Novato, CA 94949, United States., Imel EA; Indiana University School of Medicine, Indianapolis, IN 46202, United States.
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2024 Sep 26; Vol. 39 (10), pp. 1493-1502.
Autor:
Stauffer A; Department of Pediatric Orthopedics, Orthopedic Hospital Speising, Vienna, Austria.; Vienna Bone and Growth Center, European Reference Network Center for Rare Bone Diseases, Vienna, Austria., Raimann A; Vienna Bone and Growth Center, European Reference Network Center for Rare Bone Diseases, Vienna, Austria.; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria., Penzkofer S; MRI Institute Bader, Orthopedic Hospital Speising, Vienna, Austria., Ganger R; Department of Pediatric Orthopedics, Orthopedic Hospital Speising, Vienna, Austria.; Vienna Bone and Growth Center, European Reference Network Center for Rare Bone Diseases, Vienna, Austria., Radler C; Department of Pediatric Orthopedics, Orthopedic Hospital Speising, Vienna, Austria.; Vienna Bone and Growth Center, European Reference Network Center for Rare Bone Diseases, Vienna, Austria., Mindler GT; Department of Pediatric Orthopedics, Orthopedic Hospital Speising, Vienna, Austria.; Vienna Bone and Growth Center, European Reference Network Center for Rare Bone Diseases, Vienna, Austria.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Sep 19; Vol. 15, pp. 1422356. Date of Electronic Publication: 2024 Sep 19 (Print Publication: 2024).
Autor:
Brueck L; Department of Cytology, Institute of Anatomy, Ruhr-University Bochum, D-44801 Bochum, Germany., Roocke S; The Medical Proteome Center, Ruhr-University Bochum, D-44801 Bochum, Germany., Matschke V; Department of Cytology, Institute of Anatomy, Ruhr-University Bochum, D-44801 Bochum, Germany.; International Graduate School of Neuroscience (IGSN), Ruhr-University Bochum, D-44801 Bochum, Germany., Richter-Unruh A; Clinic for Children and Adolescents, Pediatric Endocrinology, St. Josefs-Hospital, D-44791 Bochum, Germany., Marcus-Alic K; The Medical Proteome Center, Ruhr-University Bochum, D-44801 Bochum, Germany.; International Graduate School of Neuroscience (IGSN), Ruhr-University Bochum, D-44801 Bochum, Germany., Theiss C; Department of Cytology, Institute of Anatomy, Ruhr-University Bochum, D-44801 Bochum, Germany.; International Graduate School of Neuroscience (IGSN), Ruhr-University Bochum, D-44801 Bochum, Germany., Stahlke S; Department of Cytology, Institute of Anatomy, Ruhr-University Bochum, D-44801 Bochum, Germany.
Publikováno v:
Cells [Cells] 2024 Sep 10; Vol. 13 (18). Date of Electronic Publication: 2024 Sep 10.
Autor:
Edouard T; Endocrine, Bone Diseases and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, OSCAR Network, ERN BOND, Children's Hospital, Toulouse University Hospital; RESTORE, INSERM U1301, Paul Sabatier University; Toulouse, France. Electronic address: edouard.t@chu-toulouse.fr., Linglart A; AP-HP, Paris Saclay University, INSERM; Centre de Référence des Maladies Rares du Calcium et du Phosphore, Service d'Endocrinologie et diabète de l'enfant, Filières Santé Maladies Rares OSCAR, ERN endoRARE et BOND, Hôpital Bicêtre Paris-Saclay; U1185 physiologie et physiopathologie endocrinienne; Le Kremlin Bicêtre, France.
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2024 Sep; Vol. 31 (4S1), pp. 4S27-4S32.
Autor:
Dursun F; Department of Pediatric Endocrinology, SBU Umraniye Training and Research Hospital, University of Health Science, Istanbul, Türkiye., Turan İ; Department of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Türkiye., Bitkin EÇ; Department of Pediatric Endocrinology, Bakırkoy Dr Sadi Konuk Training and Research Hospital, Istanbul, Türkiye., Bayramoğlu E; Department of Pediatric Endocrinology, Cerrahpaşa Faculty of Medicine, Istanbul University, İstanbul, Türkiye., Çayır A; Department of Pediatric Endocrinology and Diabetes, Erzurum Education and Research Hospital, University of Health Science, Erzurum, Türkiye., Erdeve ŞS; Department of Pediatric Endocrinology, Ankara Etlik City Hospital, University of Health Science, Ankara, Türkiye., Çakır EDP; Department of Pediatric Endocrinology, Bakırkoy Dr Sadi Konuk Training and Research Hospital, Istanbul, Türkiye., Çamtosun E; Department of Pediatric Endocrinology, Faculty of Medicine, Inönü University, Malatya, Türkiye., Dilek SO; Department of Pediatric Endocrinology, Adana City Training and Research Hospital, University of Health Science, Adana, Türkiye., Kırmızıbekmez H; Department of Pediatric Endocrinology, SBU Umraniye Training and Research Hospital, University of Health Science, Istanbul, Türkiye., Eser M; Department of Medical Genetic, Umraniye Training and Research Hospital, Istanbul, Türkiye., Türkyılmaz A; Department of Medical Genetic, Faculty of Medicine, Karadeniz Technical University, Trabzon, Türkiye., Karagüzel G; Department of Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Türkiye.
Publikováno v:
Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 Nov; Vol. 101 (5), pp. 475-484. Date of Electronic Publication: 2024 Feb 07.