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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. No Access

    Article

    Elevated Bone Remodeling Markers of CTX and P1NP in Addition to Sclerostin in Patients with X-linked Hypophosphatemia: A Cross-Sectional Controlled Study

    Aspects of bone remodeling have only been scarcely studied in X-linked hypophosphatemia (XLH). In this cross-sectional controlled study, we assessed biochemical indices of bone remodeling and sclerostin in 27 ...

    Stinus Hansen, Vikram V. Shanbhogue, Niklas Rye Jørgensen… in Calcified Tissue International (2019)

  3. 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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  4. No Access

    Article

    Impact of Conventional Medical Therapy on Bone Mineral Density and Bone Turnover in Adult Patients with X-Linked Hypophosphatemia: A 6-Year Prospective Cohort Study

    X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recom...

    Vikram Vinod Shanbhogue, Stinus Hansen… in Calcified Tissue International (2018)

  5. No Access

    Article

    Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia

    Vitamin-D-dependent rickets type 1A (VDDR1A) is a rare inherited disease caused by defective activation of vitamin D. The aim of the study was to describe the craniofacial characteristics and the dental phenot...

    Hans Gjørup, Signe Sparre Beck-Nielsen, Dorte Haubek in Clinical Oral Investigations (2018)

  6. No Access

    Article

    Nutritional rickets in Denmark: a retrospective review of children’s medical records from 1985 to 2005

    This study describes clinical and biochemical characteristics of nutritional rickets and risk factors at diagnosis among children living in Denmark. All medical records from patients with rickets referred to o...

    Signe Sparre Beck-Nielsen, Tina Kold Jensen, Jeppe Gram… in European Journal of Pediatrics (2009)