Results 21 to 30 of about 9,343 (245)

X-Linked Hypophosphatemia

Journal of the Osteopathic Family Physicians of California, 2023
Linked Hypophosphatemia (XLH) is a genetic disorder that affects the bones and teeth, primarily characterized by low levels of phosphate in the blood. XLH is a rare disorder but is considered the most common inherited form of rickets. The clinical presentation of XLH varies widely with the most common symptoms of XLH being short stature, bowing of the ...
Steven Barag, Ajith Raja, Jennifer C. Shieh   +2 more
openalex   +2 more sources

Evaluation of dental manifestations in X-linked hypophosphatemia using orthopantomography. [PDF]

PLoS ONE
BackgroundX-linked hypophosphatemia (XLH) is the most common inherited form of rickets. The presence of sequence variations in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene is associated with increased production of fibroblast ...
Rena Okawa, Misato Takagi, Takashi Nakamoto, Naoya Kakimoto, Kazuhiko Nakano   +4 more
doaj   +2 more sources

Prevalence of enthesopathies in X-linked hypophosphatemia: an explorative ultrasound study. [PDF]

JBMR Plus
Bachfischer L, Behanova M, Rath E, Meng S, Mittelbach A, Haschka J, Dechat T, Raimann A, Mindler G, Uyanik G, Zwerina J, Kocijan R.   +11 more
europepmc   +3 more sources

What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey. [PDF]

JBMR Plus
Sandy JL, Ford N, Bevc S, Rodda C, Siafarikas A, Simm PJ, Collins L, Wall CL, Biggin A, Munns CF.   +9 more
europepmc   +3 more sources

X-linked hypophosphatemia with enthesopathy [PDF]

BMJ Case Reports, 2017
A 42-year-old man presented with lower limb bowing since childhood along with low backache and proximal muscle weakness for 8 years. He had strong family history of similar complaints in his elder brother, younger sister and daughter. Examination revealed loss of teeth and genu varum.
Rimesh Pal, Anil Bhansali
openalex   +3 more sources

Office Blood Pressure and Obesity in Children with X-Linked Hypophosphatemia. [PDF]

Calcif Tissue Int
Böckmann I, Leifheit-Nestler M, Rehberg M, Spartà G, Evers K, Schlingmann KP, Kemper MJ, Richter-Unruh A, Hiort O, Grohmann-Held K, Derichs U, Freiberg C, Weitz M, Dunstheimer D, Schmid E, John-Kroegel U, Metzing O, Heger S, Jorch N, Staude H, Patzer L, Wühl E, Zivicnjak M, Schnabel D, Haffner D, German Society for Pediatric Nephrology (GPN) and the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED).   +25 more
europepmc   +3 more sources

Joint replacement in X-linked hypophosphatemia [PDF]

Journal of Orthopaedics, 2018
X-linked hypophosphatemia (XLH) is associated with a pervasive, severe degenerative osteoarthritis. We conducted a retrospective chart review/patient survey using the Knee or Hip Osteoarthritis Outcome Score Physical Function Short Form. Fourteen total knee arthroplasties and 7 total hip arthroplasties among 11 patients were included.
Emily S. Mills, Louis J. Iorio, Richard Feinn, Kevin M. Duignan, Carolyn M. Macica   +4 more
openalex   +4 more sources

An adult patient of X-linked hypophosphatemia with joint manifestation mimicking spondylarthritis

Chinese Medical Journal, 2022
Chuhan Wang, Jiuliang Zhao, Hongbo Yang, Yan Jiang, Yan Zhao, Weibo Xia, Lishao Guo   +6 more
doaj   +2 more sources

X-Linked Hypophosphatemia Transition and Team Management

Endocrines, 2022
X-linked hypophosphatemia (XLH) is the most common form of inherited disorders that are characterized by renal phosphate wasting, but it is a rare chronic disease.
Takuo Kubota
doaj   +1 more source

Midfoot and Forefoot Disorders in Adolescents and Adults with X-Linked Hypophosphatemia. [PDF]

J Clin Med
Wenzel-Schwarz F, Akta CC, Stauffer A, Raimann A, Kocijan R, Ganger R, Mindler GT.   +6 more
europepmc   +3 more sources