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Diagnosis of X‐linked hypophosphatemia vitamin D resistant rickets
Author(s) -
YAMAMOTO TAKEHISA
Publication year - 1997
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1997.tb03627.x
Subject(s) - hypophosphatemia , medicine , rickets , pathophysiology , hypophosphatemic rickets , vitamin d and neurology , vitamin d deficiency , pediatrics , pathology
Recent advances in the pathophysiology and diagnosis of X‐linked hypophosphatemic rickets (XLH) are reviewed. The recent discovery of the gene that is responsible for XLH especially enables us to understand the mechanism of hypophosphatemia in XLH. Laboratory and radiological findings are important for the diagnosis. However, dental abnormalities such as spontaneous dental abscess and a defect of dentin maturation are also notable findings.