Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling
pathway are historically classified under the term pseudohypoparathyroidism (PHP), which …

A cause of hypophosphatemia is phosphate wasting disorders. Knowledge concerning
mechanisms involved in phosphate wasting disorders has greatly increased in the last …

Hypoparathyroidism is a rare disease characterized by low serum calcium levels and absent
or deficient parathyroid hormone level. Regarding the epidemiology of chronic …

The main congenital conditions of hypophosphatemia expressed in adulthood include
several forms of hereditary hypophosphatemic rickets and a congenital disorder of vitamin D …

Introduction: Hypoparathyroidism is a rare disorder characterized by low serum calcium
levels and high serum phosphate levels, and low or inappropriately normal levels of …

Abstract Background Hypoparathyroidism (HypoPT) or pseudo-hypoparathyroidism (pseudo-
HypoPT) during pregnancy may cause maternal and fetal/neonatal complications. In this …

Introduction Thyroid cancer may have a familial predisposition and may occur in the context
of hereditary syndromes or as isolated tumor. Recently, the G534E variant in the HABP2 …

Objectives To assess the perceptions of genetic and metabolic bone disorders with a focus
on X-linked hypophosphatemia (XLH) in the Middle East and Africa. Materials and Methods …

Анотація Огляд літератури відображає поточний стан діагностики та терапії рідкісних
ендокринних захворювань. До орфанних захворювань гіпофіза відносяться як …

Originally, rare diseases and orphan diseases were not synonyms. Rare diseases became
known as orphan diseases because pharmaceutical companies were not interested in …