Results 71 to 80 of about 1,327 (129)

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

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   +1 more source

Impact of burosumab on lower limb alignment in children with X-linked hypophosphatemia

Journal of the Pediatric Orthopaedic Society of North America
: Background: Osteotomy and hemiepiphysiodesis are used to treat lower limb deformities in the rare musculoskeletal disease X-linked hypophosphatemia (XLH), but postsurgical complications and malalignment recurrence are possible.
David B. Frumberg, MD, FAAOS, J. Lawrence Merritt, II, MD, Angel Chen, MSc, Thomas O. Carpenter, MD   +3 more
doaj   +1 more source

X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab

Orphanet Journal of Rare Diseases
Hypophosphatemia presents with highly variable clinical manifestations. Among the identified hypophosphatemic disorders, X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) are caused by persistent excess fibroblast growth factor 23 ...
Maria Luisa Brandi, Cristina Eller Vainicher, Danilo Fintini, Andrea Giusti, Andrea Magnolato, Salvatore Minisola, Sandro Giannini   +6 more
doaj   +1 more source

Characteristics of oral health of patients with X-linked hypophosphatemia: case reports and literature review

BDJ Open
Background Oral health is impaired in X-linked hypophosphatemia (XLH), resulting in delayed dental development, malocclusion, and radiographic abnormalities.
Ana Arhar, Alenka Pavlič, Luka Hočevar
doaj   +1 more source

The PHEX deletion variant (p.Thr605MetfsTer14) causes X-linked hypophosphatemic rickets by reducing protein expression and promoting mineralization

Orphanet Journal of Rare Diseases
Background X-linked hypophosphatemic rickets (XLH, OMIM: 307800) is the most prevalent hereditary ricket characterized by hypophosphatemia, rickets, and osteomalacia. XLH resulted from pathogenic variants in PHEX gene.
Zhongzhi Gan, Meiyu Zheng, Chenzhao Guo, Fei He, Yingchun Zheng, Jiayi Li, Chen Li, Fang Yang, Qingfang Song, Qingxian Chang, Qian Liu, Fu Xiong, Hairui Xie   +12 more
doaj   +1 more source

X-linked Hypophosphatemia (XLH) Mimicking Rheumatic Disease. [PDF]

Intern Med, 2020
Takase R, Nakano Y, Hasegawa K, Otsuka F.   +3 more
europepmc   +1 more source

Clinical Evidence for the Benefits of Burosumab Therapy for X-Linked Hypophosphatemia (XLH) and Other Conditions in Adults and Children. [PDF]

Front Endocrinol (Lausanne), 2020
Schindeler A, Biggin A, Munns CF.
europepmc   +1 more source

Significance of assessing the severity of craniosynostosis in patients with X-linked hypophosphatemia (XLH) at diagnosis. [PDF]

Clin Pediatr Endocrinol
Terashita S, Akai T, Hata I, Ozawa T, Imai C.   +4 more
europepmc   +1 more source

Epidemiological analysis to identify predictors of X-linked hypophosphatemia (XLH) diagnosis in an Italian pediatric population: the EPIX project. [PDF]

Endocrine
Crisafulli S, Ingrasciotta Y, Vitturi G, Fontana A, L'Abbate L, Alessi Y, Ferraù F, Cantarutti L, Lazzerini D, Cannavò S, Trifirò G.   +10 more
europepmc   +1 more source

Real-world data of Brazilian adults with X-linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts. [PDF]

Mol Genet Genomic Med
Vaisbich MH, de Cillo ACP, Silva BCC, DÁlva CB, de Carvalho ÉH, de Almeida JMCM, Marques LLM, Ribeiro M, da Silva MBM, de Medeiros PFV, Mendes PH.   +10 more
europepmc   +1 more source