Results 21 to 30 of about 2,648 (201)
Life, 2021 The authors present a stereotypical case presentation of X-linked hypophosphatemia (XLH) and provide a review of the pathophysiology and related pharmacology of this condition, primarily focusing on the FDA-approved medication burosumab.
Jon Vincze +5 more
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Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives [PDF]
, 2023 X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disease with multisystem impact that typically begins to manifest in early childhood. Two treatment options exist: oral phosphate in combination with active vitamin D (“conventional therapy”)
Karine Briot +20 more
core +1 more source
Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia
Endocrine Connections, 2020 Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate levels. Scientific evidence points to a link between h ypophosphatemia and obesity in general population. The aim of our longitudinal observational study was
Volha V Zhukouskaya +11 more
doaj +1 more source
Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia
Frontiers in Endocrinology, 2021 BackgroundX-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired.
Gabriel T. Mindler +16 more
doaj +1 more source
Recent advances in the diagnosis and treatment of X-linked hypophosphatemic rickets [PDF]
Linchuang erke zazhiX-linked hypophosphatemic rickets (XLH) is a skeletal mineralization disorder characterized by hypophosphatemia, caused by pathogenic variants in the PHEX gene that lead to elevated levels of fibroblast growth factor 23 (FGF23), which in turn inhibits ...
CHENG Yuheng, XU Zizhao, CHEN Ying
doaj +1 more source
XLH: more effective memory deduplication scanners through cross-layer hints [PDF]
, 2013 Limited main memory size is the primary bottleneck for consolidating virtual machines (VMs) on hosting servers. Memory deduplication scanners reduce the memory footprint of VMs by eliminating redundancy.
Franz, F. +4 more
core +1 more source
Treatment of X-Linked Hypophosphatemia in Children
Endocrines, 2022 The conventional treatment for X-linked hypophosphatemia (XLH), consisting of phosphorus supplementation and a biologically active form of vitamin D (alfacalcidol or calcitriol), is used to treat rickets and leg deformities and promote growth.
Toshihiro Tajima, Yukihiro Hasegawa
doaj +1 more source
Frontiers in Genetics, 2022 X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550).
Yanting Yang +13 more
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Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH) [PDF]
, 2019 Early diagnosis, optimal therapeutic management and regular follow up of children with X-linked hypophosphatemia (XLH) determine their long term outcomes and future quality of life. Biochemical screening of potentially affected newborns in familial cases
Linglart, Agnes +3 more
core +1 more source
JCI Insight, 2023 X-linked hypophosphatemia (XLH) is characterized by high serum fibroblast growth factor 23 (FGF23) levels, resulting in impaired 1,25-dihydroxyvitamin D3 (1,25D) production.
Rakshya Rana +6 more
doaj +1 more source