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  1. Article

    Open Access

    The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

    X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis m...

    Gema Ariceta, Signe Sparre Beck-Nielsen… in Orphanet Journal of Rare Diseases (2023)

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  2. Article

    Open Access

    FGF23 and its role in X-linked hypophosphatemia-related morbidity

    X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic e...

    Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner… in Orphanet Journal of Rare Diseases (2019)

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