Results 11 to 20 of about 7,233,987 (192)
X-linked hypophosphatemia and growth [PDF]
Reviews in Endocrine and Metabolic Disorders, 2017 X-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene. XLH is characterized by hypophosphatemia secondary to renal phosphate wasting, inappropriately low concentrations of 1,25
Santos Rodríguez, Fernando +7 more
core +8 more sources
Burosumab for pediatric X-linked hypophosphatemia [PDF]
Current Osteoporosis Reports, 2021 PURPOSE OF REVIEW: X-linked hypophosphatemia (XLH) is the most common genetic cause of rickets. This review describes advances in management of XLH using burosumab which was FDA approved for treating children with XLH in 2018.
Imel, Erik A.
core +3 more sources
Complications and Treatments in Adult X-Linked Hypophosphatemia
Endocrines, 2022 X-linked hypophosphatemia (XLH) is a rare inherited disorder involving elevated levels of fibroblast growth factor (FGF) 23, and is caused by loss-of-function mutations in the PHEX gene. FGF23 induces renal phosphate wasting and suppresses the activation
Yasuo Imanishi +2 more
doaj +2 more sources
Impact of X-Linked Hypophosphatemia on Muscle Symptoms [PDF]
Genes, 2022 X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and deficiency of renal tubular phosphate transport in humans. XLH is caused by the inactivation of mutations within the phosphate-regulating endopeptidase homolog X-linked ...
Romagnoli, Cecilia +5 more
core +3 more sources
Genotype and Phenotype Analysis in X-Linked Hypophosphatemia [PDF]
Frontiers in Pediatrics, 2021 Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed genotype-phenotype correlations in XLH patients with proven PHEX mutations.Methods:PHEX mutations ...
Peong Gang Park +11 more
doaj +3 more sources
FGF23 and its role in X-linked hypophosphatemia-related morbidity [PDF]
Orphanet Journal of Rare Diseases, 2019 Background 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 effects including impaired ...
Signe Sparre Beck-Nielsen +9 more
doaj +2 more sources
International Journal of Implant Dentistry, 2019 Background X-linked hypophosphatemia is associated with a range of dental problems, many of which may result in early loss of the dentition. Most patients, but especially young adults, are likely to desire fixed prosthodontic replacements, and dental ...
Martin James, Reza Vahid Roudsari
doaj +2 more sources
Endocrinology Research and PracticeX-linked hypophosphatemia (XLH) is the most common inherited form of hypophosphatemic rickets, caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene.
Esra Eraslan Aydemir +4 more
doaj +4 more sources
Pathogenesis of FGF23-Related Hypophosphatemic Diseases Including X-linked Hypophosphatemia
Endocrines, 2022 Since phosphate is indispensable for skeletal mineralization, chronic hypophosphatemia causes rickets and osteomalacia. Fibroblast growth factor 23 (FGF23), which is mainly produced by osteocytes in bone, functions as the central regulator of phosphate ...
Tatsuro Nakanishi, Toshimi Michigami
doaj +2 more sources
Dental management of patients with X-linked hypophosphatemia
Restorative Dentistry & Endodontics, 2017 X-linked hypophosphatemia (XLH) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine, and an associated decrease in serum calcium and potassium phosphate.
Bin-Na Lee +4 more
doaj +3 more sources