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Hello Welcome on XLH Research! This website is dedicated to the scientific research on X-Linked Hypophosphatemic Rickets (XLHR or XLH). XLH is a monogenic hereditary disease caused by mutation of the phex gene on the X chromosome. For decades, the treatment of XLH relied on oral phosphate supplementation and pharmacologic correction of the. Hypocalcitriolemia with oral calcitriol. The efficiency of this treatment is however often limited and not devoided of side effects. Réalisé avec Xara.

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Hello Welcome on XLH Research! This website is dedicated to the scientific research on X-Linked Hypophosphatemic Rickets (XLHR or XLH). XLH is a monogenic hereditary disease caused by mutation of the phex gene on the X chromosome. For decades, the treatment of XLH relied on oral phosphate supplementation and pharmacologic correction of the. Hypocalcitriolemia with oral calcitriol. The efficiency of this treatment is however often limited and not devoided of side effects. Réalisé avec Xara.

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Hello Welcome on XLH Research! This website is dedicated to the scientific research on X-Linked Hypophosphatemic Rickets (XLHR or XLH). XLH is a monogenic hereditary disease caused by mutation of the phex gene on the X chromosome. For decades, the treatment of XLH relied on oral phosphate supplementation and pharmacologic correction of the. Hypocalcitriolemia with oral calcitriol. The efficiency of this treatment is however often limited and not devoided of side effects. Réalisé avec Xara.

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chapters intro

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Bone is the central stage where the XLH. Story takes place. But kidneys, parathyroid. And small intestine are also more or less. Directly involved. In this section, we will. XLH is caused by genetic mutations that. Cause the inactivation of a protein called. PHEX The exact function of PHEX is still. Unclear about 25 years after its discovery. But what has become evident is that PHEX. Is an intermediate in a complex process. Aimed at regulating another protein: FGF-. The proteins involved in the.

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Réalisé avec Xara. In USA: www.xlhnetwork.org. In France: RVRH-XLH (web site under construction). Companies currently developing XLH cures:. Kyowa Hakko Kirin (molecule KRN23): http:/ kyowa-kirin-ca.com/.

3

proteins

http://www.xlhresearch.net/proteins.htm

Réalisé avec Xara. In recent years, several key protein actors in the development of the XLH pathology have been. The precise relationship that exists between these proteins are far from being completely. Understood. However, recent findings have revealed how they could interact. Below, you will. Find summarized the main properties of these proteins (taken from Rowe-PS, Crit. Rev.Oral Biol. Med (2004). 15(5):264-281). Transmembrane domain and a large extracellular domain, containing a Zn-finger motif.

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Hello Welcome on XLH Research! This website is dedicated to the scientific research on X-Linked Hypophosphatemic Rickets (XLHR or XLH). XLH is a monogenic hereditary disease caused by mutation of the phex gene on the X chromosome. For decades, the treatment of XLH relied on oral phosphate supplementation and pharmacologic correction of the. Hypocalcitriolemia with oral calcitriol. The efficiency of this treatment is however often limited and not devoided of side effects. Réalisé avec Xara.

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