Article
[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -].
Clinical calcium - 1 Oct 2007
Hasegawa Yukihiro, Miyamoto Junko
Abstract excerpt
Most patients with inherited hypophosphatemic Rickets/Osteomalacia have mutations in the PHEX gene. In this brief review, we focus on the treatment for patients with this mutation. First, molecular basis of inherited hypophosphatemic Rickets/Osteomalacia, followed by pathophysiology of PHEX and its related disorders is described. Next, clinical manifestation of patients with PHEX mutations and the principles of...
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