Inorganic phosphate (Pi) plays a critical function in many tissues of the body: for example, as
part of the hydroxyapatite in the skeleton and as a substrate for ATP synthesis. Pi is the main …

Conformational diseases are caused by mutations altering the folding pathway or final
conformation of a protein. Many conformational diseases are caused by mutations in …

Recent advances in understanding the epidemiology, genetics, diagnosis, clinical
presentations, skeletal involvement, and therapeutic approaches to hypoparathyroidism led …

A 58-year-old man is found on laboratory testing to have a serum calcium level of 6.0 mg per
deciliter (normal range, 8.5 to 10.5), an albumin level of 3.9 g per deciliter, and a …

About 40% of the eukaryotic cell's proteins are inserted co-or post-translationally in the
endoplasmic reticulum (ER), where they attain the native structure under the assistance of …

We report 10 heterozygous mutations in the human insulin gene in 16 probands with
neonatal diabetes. A combination of linkage and a candidate gene approach in a family with …

Background The calcium-sensing receptor regulates the secretion of parathyroid hormone in
response to changes in extracellular calcium concentrations, and mutations that result in a …

Sodium (Na+) is the principal osmole in extracellular fluid; as such, the total body content of
Na+ and Cl-, its primary anion, determine the extracellular fluid volume. Renal excretion or …

Purpose: To provide practice recommendations for the diagnosis and management of
hypoparathyroidism in adults. Methods: Key questions pertaining to the diagnosis and …

Calcium balance is essential for a multitude of physiological processes, ranging from cell
signaling to maintenance of bone health. Adequate intestinal absorption of calcium is a …