Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
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Published:2020
Issue:3
Volume:93
Page:182-196
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ISSN:1663-2818
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Container-title:Hormone Research in Paediatrics
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language:en
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Short-container-title:Horm Res Paediatr
Author:
Mantovani GiovannaORCID, Bastepe Murat, Monk David, de Sanctis Luisa, Thiele Susanne, Ahmed S. Faisal, Bufo Roberto, Choplin Timothée, De Filippo Gianpaolo, Devernois Guillemette, Eggermann Thomas, Elli Francesca M., Garcia Ramirez Aurora, Germain-Lee Emily L., Groussin Lionel, Hamdy Neveen A.T., Hanna Patrick, Hiort Olaf, Jüppner Harald, Kamenický Peter, Knight Nina, Le Norcy Elvire, Lecumberri Beatriz, Levine Michael A., Mäkitie OutiORCID, Martin Regina, Martos-Moreno Gabriel Ángel, Minagawa Manasori, Murray Philip, Pereda Arrate, Pignolo Robert, Rejnmark Lars, Rodado Rebeca, Rothenbuhler Anya, Saraff Vrinda, Shoemaker Ashley H.ORCID, Shore Eileen M., Silve Caroline, Turan SerapORCID, Woods Philip, Zillikens M. Carola, Perez de Nanclares GuiomarORCID, Linglart Agnès
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Reference100 articles.
1. Mantovani G, Spada A, Elli FM. Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. Nat Rev Endocrinol. 2016 Jun;12(6):347–56. 2. Hanna P, Grybek V, Perez de Nanclares G, Tran LC, de Sanctis L, Elli F, et al. Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity. J Bone Miner Res. 2018 Aug;33(8):1480–8. 3. Miyakawa Y, Takasawa K, Matsubara Y, Ihara K, Ohtsu Y, Kamasaki H, et al. Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood. Endocr J. 2019 Mar;66(3):215–21. 4. Perez KM, Lee EB, Kahanda S, Duis J, Reyes M, Jüppner H, et al. Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A. Am J Med Genet A. 2018 Feb;176(2):283–9. 5. Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, et al. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA. 1990 Nov;87(21):8287–90.
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