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Keywords: Calcium-sensing receptor
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Journal Articles

Novel Calcium-Sensing Receptor ( CASR ) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics

Open Access
Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Women's and Children's Health
Amnon Zung, Galia Barash, Ehud Banne, Michael A. Levine
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2023) 96 (5): 473–482.
https://doi.org/10.1159/000529833
Published Online: 22 February 2023
...Amnon Zung; Galia Barash; Ehud Banne; Michael A. Levine Introduction: Activating mutation of the calcium-sensing receptor gene ( CASR ) reduces parathyroid hormone secretion and renal tubular reabsorption of calcium, defined as autosomal dominant hypocalcemia type 1 (ADH1). Patients with ADH1 may...
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Journal Articles

Anticonvulsant Treatment Associated with Intractable Hypocalcaemia in a Female Child with Hypoparathyroidism

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Nancy Formosa, John Torpiano, Jeremy Allgrove, Mehul T. Dattani
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2015) 83 (1): 62–66.
https://doi.org/10.1159/000365048
Published Online: 10 September 2014
...Nancy Formosa; John Torpiano; Jeremy Allgrove; Mehul T. Dattani Background: We report the case of a female infant with hypoparathyroidism due to an activating mutation in the calcium-sensing receptor gene. Case Report: The child presented in the neonatal period with clinical seizures associated...
View articletitled, Anticonvulsant Treatment Associated with Intractable Hypocalcaemia in a Female Child with Hypoparathyroidism
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Journal Articles

Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia

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Subject Area:
Endocrinology , Women's and Children's Health
J.I. Sørheim, E.S. Husebye, B.G. Nedrebø, E. Svarstad, J. Lind, H. Boman, K. Løvås
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2010) 74 (6): 399–405.
https://doi.org/10.1159/000303188
Published Online: 26 May 2010
...J.I. Sørheim; E.S. Husebye; B.G. Nedrebø; E. Svarstad; J. Lind; H. Boman; K. Løvås Background/Aims: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium- sensing receptor (CASR). We aimed to describe the phenotypic variation within a large family with ADH...
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Journal Articles

Primary Hyperparathyroidism in Neonates and Childhood: The French Experience (1984–2004)

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Subject Area:
Endocrinology , Women's and Children's Health
Eric Mallet
Journal: Hormone Research in Paediatrics
Hormone Research (2008) 69 (3): 180–188.
https://doi.org/10.1159/000112592
Published Online: 08 January 2008
... in adolescents. Intraoperative iPTH assays are effective in minimizing invasive parathyroidectomy. All patients, except neonates, underwent surgery: 29 adenomas and 11 hyperplasias were found. Two multiple endocrine neoplasias (MENs) were subsequently discovered. Since the calcium-sensing receptor (CaSR...
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