Hypoparathyroidism and central diabetes insipidus: in search of the link-Reference-Cited by-同舟云学术

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Hypoparathyroidism and central diabetes insipidus: in search of the link

Published:2014-11-04 Issue:12 Volume:173 Page:1731-1734
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Eyal Ori,Oren Asaf,Jüppner Harald,Somech Raz,De Bellis Annamaria,Mannstadt Michael,Szalat Auryan,Bleiberg Margalit,Weisman Yosef,Weintrob Naomi

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-014-2448-6.pdf

Reference29 articles.

1. Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerström G, Westin G, Scott HS, Holländer GA, Kämpe O (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 358:1018–1028

2. Baron J, Winer KK, Yankovski JA, Yankovski JA, Cunningham AW, Laue L, Zimmerman D, Cutler GB Jr (1996) Mutations in the Ca2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 5:601–606

3. Bensing S, Fetissov SO, Mulder J, Muldr J, Perheentupa J, Gustafsson J, Husebye ES, Oscarson M, Ekwall O, Crock PA, Hökfelt T, Hulting AL, Kampe O (2007) Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. PNAS 104:949–954

4. Betterle C, Dal Pra C, Mantero F, Zanchetta R (2002) Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 23:327–364

5. Björses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L (2000) Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 66:378–392

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neuroendocrine Disorders;Clinical Child Neurology;2020

2. Medical Hypoparathyroidism;Endocrinology and Metabolism Clinics of North America;2018-12

3. The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1);Autoimmunity Reviews;2018-01

4. Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism;The Journal of Clinical Endocrinology & Metabolism;2017-02-21

5. Endocrine disorders and the neurologic manifestations;Annals of Pediatric Endocrinology & Metabolism;2014

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