Results 41 to 50 of about 7,233,987 (192)

Supplement: Impaired Physical Performance in X-linked Hypophosphatemia is not caused by depleted muscular phosphate stores

open access: yes, 2023
Supplemental Data to "Impaired Physical Performance in X-linked Hypophosphatemia is not caused by depleted muscular phosphate ...
Seefried, Lothar
core   +1 more source

Refeeding Hypophosphatemia in Adolescents With Anorexia Nervosa: A Systematic Review [PDF]

open access: yes, 2013
The rate of adolescents presenting with anorexia nervosa (AN) is increasing. Medically unstable adolescents are admitted to the hospital for nutrition restoration. A lack of global consensus on appropriate refeeding practices of malnourished patients has
Nicholls, D   +3 more
core   +1 more source

Orthopedic Complications and Management in Children with X-Linked Hypophosphatemia

open access: yesEndocrines, 2022
X-linked hypophosphatemia is an inheritable disease of renal phosphate wasting that results in clinically manifestations associated with rickets or osteomalacia.
Chikahisa Higuchi
doaj   +1 more source

Management of X-linked hypophosphatemia in adults

open access: yesMetabolism, 2020
X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene which result in Fibroblast Growth Factor-23 (FG-F23) excess and phosphate wasting. Clinically, XLH children present with rickets, bone deformities and short stature. In adulthood, patients may still be symptomatic with bone and joint pain, osteomalacia-related fractures or ...
Lecoq, Anne-Lise   +3 more
openaire   +3 more sources

Positive Response to One-Year Treatment With Burosumab in Pediatric Patients With X-Linked Hypophosphatemia

open access: yesFrontiers in Pediatrics, 2020
X-linked hypophosphatemia (XLH) causes significant burden in pediatric patients in spite of maintained treatment with phosphate supplements and vitamin D derivatives.
Silvia Martín Ramos   +6 more
doaj   +1 more source

X-linked hypophosphatemia: Management and treatment prospects [PDF]

open access: yesJoint Bone Spine, 2019
X-linked hypophosphatemia (XLH), due to a PHEX gene mutation, is the most common genetic form of rickets and osteomalacia. Manifestations in children consist of rickets, lower-limb bone deformities, bone pain, failure to thrive, dental abscesses, and/or craniostenosis.
Lambert, Anne-Sophie   +3 more
openaire   +3 more sources

X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.

open access: yes, 2001
X-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). However, such PHEX mutations are not detected in approximately one third of X-linked
Harding, B   +6 more
core   +1 more source

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22 [PDF]

open access: yes, 1986
Two families with X-linked dominant hypophosphatemia (McKusick No. *30780) were investigated for linkage of the disease locus with several marker genes defined by cloned, single-copy DNA sequences derived from defined regions of the X chromosome.
Frey, D   +6 more
core   +1 more source

Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives

open access: yesFrontiers in Endocrinology, 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”)
Lothar Seefried   +12 more
doaj   +1 more source

Dental Management of children with X-linked Hypophosphatemia: A scoping review

open access: yes, 2022
This scoping review will look into the Dental Management of children with X-linked Hypophosphatemia (XLH).
Basmah AlOtaibi
core   +1 more source

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