A Clinical and Molecular Genetic Study of Hypophosphatemic Rickets in Children

Hypophosphatemic rickets and osteomalacia.

The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or ...

Hypophosphatemic rickets with hypercalciuria.

Hereditary hypophosphatemic rickets

Hereditary hypophosphatemic rickets (HHR) are a group of diseases characterized by renal phosphate wasting causing growth retardation, rickets and osteomalacia. The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene. The other hereditary hypophosphatemic syndromes present a lower prevalence. These include autosomal dominant hypop...

a contrastive study of rhetorical functions of citation in iranian and international elt scopus journals

writing an academic article requires the researchers to provide support for their works by learning how to cite the works of others. various studies regarding the analysis of citation in m.a theses have been done, while little work has been done on comparison of citations among elt scopus journal articles, and so the dearth of research in this area demands for further investigation into citatio...

Molecular and Biochemical Aspects of Hypophosphatemic Rickets: An Updated Review

Rickets is associated with aberrant mineralization in growth plates leading to the deformity of bone structure. The two main types of rickets are phosphopenic and calcipenic rickets. Phosphopenic rickets is found in a variety of sorts; the most common is the X-linked dominant hypophosphatemic rickets (HR) caused by a mutation in PHEX gene. The FGF23, DMP1, and PHEX are among the most important ...