Autosomal Dominant Hypocalcemia Type 1: A Systematic Review
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4659
Abstract: Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism due to activating variants of the calcium‐sensing receptor gene (CASR). Inherited or de novo activating variants of the CASR alter the set point… read more here.
Keywords: hypocalcemia type; calcium; therapy; dominant hypocalcemia ... See more keywords
Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor
Sign Up to like & getrecommendations! Published in 2017 at "Molecular and Cellular Endocrinology"
DOI: 10.1016/j.mce.2016.08.032
Abstract: Autosomal Dominant Hypocalcemia (ADH) is an endocrine disorder due to activating mutations of the calcium-sensing receptor (CASR) gene. We report on a young boy who presented low serum calcium with hypercalciuria, hyperphosphatemia and low serum… read more here.
Keywords: dominant hypocalcemia; hypocalcemia; autosomal dominant; calcium ... See more keywords