论文信息 - Neonatal severe hyperparathyroidism due to a homozygous mutation of calcium-sensing receptor; a challenging case

Neonatal severe hyperparathyroidism due to a homozygous mutation of calcium-sensing receptor; a challenging case

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Correspondence: FRH < raihana.nuzair@gmail.com>. Conflicts of interests There are no conflicts of interest. None of the authors received funding. HHS Public Access Author manuscript Ceylon Med J. Author manuscript; available in PMC 2020 June 01.

M. Levine | N. Atapattu | A. Lamahewage | Raihana Hashim | Kala Somasundarum

[1] G. Hendy,et al. Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet. , 2014, Bone.

[2] A. Al-Rabeeah,et al. Surgical management of severe neonatal hyperparathyroidism: one center's experience. , 2010, Journal of pediatric surgery.

[3] T. Jap,et al. A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. , 2009, The Journal of clinical endocrinology and metabolism.

[4] B. Steinmann,et al. Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism , 1999, Clinical endocrinology.