Prolonged neonatal phosphate retention and transient hypercalcemia following antenatal Burosumab exposure: a pharmacovigilance alert [PDF]
Therapeutic Advances in Drug SafetyBurosumab is a monoclonal antibody targeting fibroblast growth factor 23 (FGF23) and is approved for the treatment of X-linked hypophosphatemia. Its use during pregnancy has not been studied, and fetal exposure may affect neonatal mineral metabolism.
Guido Filler +4 more
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A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022) [PDF]
Orphanet Journal of Rare DiseasesBackground Familial hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health and social life.
Frank Hernández-García +6 more
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Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. [PDF]
PLoS ONE, 2018 Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed.Clinical features and mutation spectrum were ...
Sezer Acar +18 more
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Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms [PDF]
Endocrinology and MetabolismThyrotoxic hypokalemic periodic paralysis (THPP) is a rare but potentially fatal complication of thyrotoxicosis, characterized by transient episodes of muscle weakness in the setting of hypokalemia and underlying hyperthyroidism.
Gan Qing +5 more
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Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few
Ha Young Jo +8 more
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Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia
Frontiers in Endocrinology, 2022 ObjectiveThe aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of PHEX gene mutations, of 22 and 7 patients with familial ...
Tian Xu +3 more
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International Journal of Oral Science, 2023 X-linked hypophosphatemia (XLH) represents the most common form of familial hypophosphatemia. Although significant advances have been made in the treatment of bone pathology, patients undergoing therapy continue to experience significantly decreased oral
Elizabeth Guirado +7 more
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The Turkish Journal of Pediatrics, 2023 Background. Familial hypocalciuric hypercalcemia (FHH) is one of the conditions that should be considered in the differential diagnosis of hypercalcemia and normo-hypophosphatemia in childhood.
Serkan Bilge Koca
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A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene.
Chong Kun Cheon +5 more
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Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. [PDF]
PLoS ONE, 2014 OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese ...
Hua Yue +12 more
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