Results 11 to 20 of about 9,343 (245)

Special Issue: “X-Linked Hypophosphatemia”

Endocrines, 2023
Rickets and osteomalacia are associated with impaired mineralization in growth plate cartilage and the bone osteoid [...]
Seiji Fukumoto, Yukihiro Hasegawa
doaj   +2 more sources

Adult Presentation of X-Linked Hypophosphatemia

Endocrines, 2022
Adult X-linked hypophosphatemia (XLH) patients present with specific symptoms, including enthesopathies (e.g., ossification of longitudinal ligaments (OPLL), osteophytes around large joints, and enthesopathy in the Achilles tendons), early osteoarthritis,
Nobuaki Ito
doaj   +2 more sources

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   +2 more sources

Genotype and Phenotype Analysis in X-Linked Hypophosphatemia [PDF]

Frontiers in Pediatrics, 2021
Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed genotype-phenotype correlations in XLH patients with proven PHEX mutations.Methods:PHEX mutations ...
Peong Gang Park, Seon Hee Lim, HyunKyung Lee, Yo Han Ahn, Yo Han Ahn, Yo Han Ahn, Hae Il Cheong, Hae Il Cheong, Hee Gyung Kang, Hee Gyung Kang, Hee Gyung Kang, Hee Gyung Kang   +11 more
doaj   +3 more sources

Short stature in pre-pubertal children with X-linked hypophosphatemia [PDF]

Endocrine Connections
Objective: Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH.
Hanting Liang, Wenting Qi, Chenxi Jin, Cong Zhang, Yushuo Wu, Xiaosen Ma, Qianqian Pang, Ruizhi Jiajue, Yue Chi, Wei Liu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Jiajun Zhao, Weibo Xia   +15 more
doaj   +2 more sources

Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia

Frontiers in Endocrinology, 2022
ObjectiveThe aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of PHEX gene mutations, of 22 and 7 patients with familial ...
Tian Xu, Xiaohui Tao, Zhenlin Zhang, Hua Yue   +3 more
doaj   +2 more sources

A case report of X-linked hypophosphatemia combined with primary hyperparathyroidism [PDF]

Frontiers in Endocrinology
Both hypophosphatemic osteomalacia and primary hyperparathyroidism (PHPT) can lead to hypophosphatemia, but their simultaneous occurrence in the same patient is exceedingly rare.
YinQiong Wu, Min Yang, Ying Zhang, Qin Wang   +3 more
doaj   +2 more sources

Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil [PDF]

Archives of Endocrinology and Metabolism, 2020
Objective: The aim of this cross-sectional study was to estimate the prevalence of XLH in Paraná, a state in southern Brazil, and report the clinical features and complications of the disease.
Carolina Aguiar Moreira, Tatiana M. R. Lemos Costa, Julia Vieira Oberger Marques, Lucimary Sylvestre, Ana Cristina R. Almeida, Eliane M. C. P. Maluf, Victória Z. C. Borba   +6 more
doaj   +2 more sources

Dental management of patients with X-linked hypophosphatemia

Restorative Dentistry & Endodontics, 2017
X-linked hypophosphatemia (XLH) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine, and an associated decrease in serum calcium and potassium phosphate.
Bin-Na Lee, Hye-Yoon Jung, Hoon-Sang Chang, Yun-Chan Hwang , Won-Mann Oh   +4 more
doaj   +3 more sources

X-linked hypophosphatemia [PDF]

Digital Doctor, 2022
Ralph A. Meyer, William F. Conway, Juliana C.N. Chan   +2 more
openalex   +2 more sources