Results 61 to 70 of about 9,343 (245)
PočkiBackground. X-linked hypophosphatemia is the most common form of hereditary vitamin D-resistant rickets. Today, there is a late diagnosis, later treatment start and a significant deterioration in the quality of life of patients with X-linked ...
L.I. Vakulenko
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Fibroblast growth factor 23 (FGF23) levels, phosphate Intake and its association with Indices of renal handling of phosphate in healthy volunteers [PDF]
, 2016 FGF23 is a novel phosphaturic hormone; we aimed to assess the FGF23 levels and its association with dietary phosphate intake and indices of renal handling of phosphate in this study.
Abbas, Noreen +3 more
core +1 more source
Impact of X-Linked Hypophosphatemia on Muscle Symptoms
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 (PHEX) gene and follows an X-dominant transmission. It has an estimated frequency of 1 case per 20,000,
Romagnoli, Cecilia +2 more
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X-Linked Hypophosphatemia: A New Era in Management [PDF]
Journal of the Endocrine Society, 2020 Abstract X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disease that often causes pain and short stature, as well as decreased physical function, mobility, and quality of life. Hypophosphatemia in XLH is caused by loss of function mutations in the phosphate-regulating endopeptidase homolog X-linked ...
Kathryn Dahir +3 more
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Seminars in nephrology, 1989 X-linked hypophosphatemia is a common cause of metabolic rickets in children in this country. The gene defect is localized to the Xp22 region in man. Research into this disorder has been enhanced by the discovery of a mutant gene named Hyp on the X chromosome of mice that produces a syndrome similar to the human disease.
R A, Meyer, W F, Conway, J C, Chan
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Clinical Case Reports, 2022 X‐linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life.
Marcia Janneth Bermeo Cabrera +5 more
doaj +1 more source
Forensic and clinical diagnosis in shaken baby syndrome , between child abuse and iatrogenic abuse [PDF]
, 2017 “Shaken baby syndrome” in child abuse cases is a challenge for pediatrician and forensic experts, often a diagnosis of exclusion, with overwhelming moral and legal implications.
Apostol, Irina +3 more
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European Journal of Dental Education, EarlyView.ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer +4 more
wiley +1 more source
The metabolic bone disease associated with the Hyp mutation is independent of osteoblastic HIF1α expression [PDF]
, 2017 Fibroblast growth factor-23 (FGF23) controls key responses to systemic phosphate increases through its phosphaturic actions on the kidney. In addition to stimulation by phosphate, FGF23 positively responds to iron deficiency anemia and hypoxia in rodent ...
Allen, Matt +5 more
core +9 more sources
Increased Metabolic Rate in X-linked Hypophosphatemic Mice [PDF]
, 1986 Hyp mice are a model for human X-linked hypophosphatemia, the most common form of vitamin D-resistant rickets. It has previously been observed that Hyp mice have a greater food consumption per gram body weight than do normal mice.
Meyer, M. H. +2 more
core +1 more source