Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement

被引:0
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作者
Mantovani, Giovanna [1 ]
Bastepe, Murat [2 ,3 ]
Monk, David [4 ]
de Sanctis, Luisa [5 ]
Thiele, Susanne [6 ]
Usardi, Alessia [7 ]
Ahmed, Faisal [8 ]
Bufo, Roberto [9 ]
Choplin, Timothee [10 ]
DeFillipo, Gianpaolo [11 ]
Devernois, Guillemette [10 ]
Eggermann, Thomas [12 ]
Elli, Francesca M. [1 ]
Freson, Kathleen [13 ]
Garcia Ramirez, Aurora [14 ]
Germain-Lee, Emily [15 ,16 ,17 ]
Groussin, Lionel [18 ,19 ]
Hamdy, Neveen [20 ]
Hanna, Patrick [21 ]
Hiort, Olaf [6 ]
Juppner, Harald [2 ,3 ]
Kamenicky, Peter [22 ,23 ,24 ]
Knight, Nina [25 ]
Kottler, Marie-Laure [26 ]
Le Norcy, Elvire [27 ,28 ]
Lecumberri, Beatriz [29 ]
Levine, Michael A. [30 ,31 ]
Makiti, Outi [32 ,33 ]
Martin, Regina [34 ]
Angel Martos-Moreno, Gabriel [35 ]
Minagawa, Masanori [36 ]
Muray, Philip [37 ]
Pereda, Arrate [38 ]
Pignolo, Roberto [39 ]
Rejnmark, Lars [40 ]
Rodado, Rebecca [14 ]
Rothenbuhler, Anya [7 ]
Saraff, Vrinda [41 ]
Shoemaker, Ashley [42 ]
Shore, Eileen M. [43 ,44 ]
Silve, Caroline [45 ]
Turan, Serap [46 ]
Woods, Philip [47 ]
Zillikens, M. Carola [48 ]
Perez de Nanclares, Guiomar [38 ]
Linglart, Agnes [7 ,8 ]
机构
[1] Univ Milan, Dept Clin Sci & Community Hlth, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Endocrinol Unit, Milan, Italy
[2] Massachusetts Gen Hosp, Dept Med, Endocrine Unit, Boston, MA 02114 USA
[3] Harvard Med Sch, Boston, MA USA
[4] Inst Invest Biomed Bellvitge IDIBELL, Canc Epigenet & Biol Program PEBC, Imprinting & Canc Grp, Barecelona, Spain
[5] Univ Torino, Dept Publ Hlth & Pediat Sci, Pediat Endocrinol Unit, Turin, Italy
[6] Univ Lubeck, Dept Pediat, Div Pediat Endocrinol & Diabet, Lubeck, Germany
[7] Bicetre Paris Sud Hosp, Reference Ctr Rare Disorders Calcium & Phosphate, Platform Expertise ParisSud Rare Dis & Filiere OS, AP HP,Endocrinol & Diabet Children, Le Kremlin Bicetre, France
[8] Univ Glasgow, Sch Med Dent & Nursing Studies, Dev Endocrinol Res Grp, Glasgow, Lanark, Scotland
[9] IPOHA, Foggia, Italy
[10] French PHP & Related Disorders Patient Assoc, K20, Jouars Pontchartrain, France
[11] Bicetre Paris Sud Hosp, AP HP, Dept Med Adolescents, Le Kremlin Bicetre, France
[12] Tech Univ Aachen, Inst Human Genet, Aachen, Germany
[13] Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Gasthuisberg, Leuven, Belgium
[14] Spanish PHP & Related Disorders Patient Assoc, AEPHP, Huercal Overa, Almeria, Spain
[15] Univ Connecticut, Sch Med, Albright Ctr, Farmington, CT USA
[16] Univ Connecticut, Sch Med, Div Pediat Endocrinol & Diabet, Ctr Rare Bone Disorders,Connecticut Childrens Med, Farmington, CT USA
[17] Univ Connecticut, Sch Med, Dept Pediat, Farmington, CT USA
[18] Cochin Hosp, AP HP, Dept Endocrinol, Paris, France
[19] Sorbonne Paris Cite, Univ Paris Descartes, Paris, France
[20] Leiden Univ, Med Ctr, Div Endocrinol & Ctr Bone Qual, Dept Med, Leiden, Netherlands
[21] Univ Paris Sud Paris Saclay, Bicetre Paris Sud, INSERM, U1169, Le Kremlin Bicetre, France
[22] AP HP, Platform Expertise Paris Sud Rare Dis & Filiere O, Reference Ctr Rare Disorders Calcium & Phosphate, Le Kremlin Bicetre, France
[23] Bicetre Paris Sud Hosp, AP HP, Dept Endocrinol & Reprod Dis, Le Kremlin Bicetre, France
[24] Univ Paris Sud Paris Saclay, Bicetre Paris Sud, INSERM, U1185, Le Kremlin Bicetre, France
[25] 19UK Acrodysostosis Patients Grp, London, England
[26] Caen Univ Hosp, Dept Genet, Caen, France
[27] Bretonneau Hosp PNVS, AP HP, Dept Odontol, Paris, France
[28] Paris Descartes Univ, Fac Dent, Montrouge, France
[29] La Paz Univ Hosp, Dept Endocrinol & Nutr, Madrid, Spain
[30] Univ Penn, Perelman Sch Med, Div Endocrinol & Diabet, Dept Pediat, Philadelphia, PA 19104 USA
[31] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Ctr Bone Hlth, Philadelphia, PA 19104 USA
[32] Univ Helsinki, Helsinki, Finland
[33] Helsinki Univ Hosp, Childrens Hosp, Helsinki, Finland
[34] Univ Sao Paulo, ICB, Dept Fisiol & Biofis, Lab Metab & Endocrinol, Sao Paulo, Brazil
[35] Univ Autonoma Madrid, Hosp Infantil Univ Nirio Jesus, Dept Endocrinol, IIS Princesa,Dept Pediat,CIBERobn,ISCIII, Madrid, Spain
[36] Chiba Childrens Hosp, Div Endocrinol, Chiba, Japan
[37] Manchester Univ NHS Fdn Trust, Royal Manchester Childrens Hosp, Dept Paediat Endocrinol, Manchaster, England
[38] Hosp Univ Araba Txagorritxu, BioAraba Natl Hlth Inst, Mol Epi Genet Lab, Vitoria, Spain
[39] Mayo Clin, Dept Med, Rochester, MN USA
[40] Aarhus Univ Hosp, Dept Endocrinol & Internal Med, Aarhus, Denmark
[41] Birmingham Childrens Hosp, Dept Endocrinol & Diabet, Birmingham, W Midlands, England
[42] Vanderbilt Univ, Med Ctr, Pediat Endocrinol & Diabet 33, 221 Kirkland Hall, Nashville, TN 37235 USA
[43] Univ Penn, Perelman Sch Med, Ctr Res FOP & Related Disorders, Dept Orthopaed Surg, Philadelphia, PA 19104 USA
[44] Univ Penn, Perelman Sch Med, Ctr Res FOP & Related Disorders, Dept Genet, Philadelphia, PA 19104 USA
[45] Hop Cochin, AP HP, Serv Biochim & Genet Mol, Paris, France
[46] Marmara Univ, Div Endocrinol & Diabet, Dept Pediat, Istanbul, Turkey
[47] UK Acrodysostosis Patients Grp, London, England
[48] Univ Med Ctr Rotterdam, Bone Ctr Erasmus MC, Dept Internal Med 37, Rotterdam, Netherlands
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D O I
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中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
RFC11.1
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页码:108 / 109
页数:2
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