Results 121 to 130 of about 4,392 (235)

SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation [PDF]

J Endocr Soc, 2020
Badran A, Bargman R.
europepmc   +3 more sources

NaPi-IIa interacting proteins and regulation of renal reabsorption of phosphate [PDF]

, 2018
Control of phosphate (Pi) homeostasis is essential for many biologic functions and inappropriate low levels of Pi in plasma have been suggested to associate with several pathological states, including renal stone formation and stone recurrence.
Biber, Jürg, Capuano, Paola, Déliot, Nadine, Gisler, Serge, Hernando, Nati, Murer, Heini, Reining, Sonja   +6 more
core  

The enthesopathy of vitamin D-resistant osteomalacia in adults

Reumatismo, 2011
A case of an adult patient with vitamin D-resistant osteomalacia or X-linked hypophosphatemic osteomalacia (XLH) with diffuse calcification of entheses was reported. XLH is the most frequent cause of rickets in developed countries. It is characterized by
C. Valvason, F. Oliviero, M. Podswiadek, P. Sfriso, R. Ramonda, L. Punzi   +5 more
doaj   +1 more source

Chronic Hyperphosphatemia and Vascular Calcification Are Reduced by Stable Delivery of Soluble Klotho [PDF]

, 2016
αKlotho (αKL) regulates mineral metabolism, and diseases associated with αKL deficiency are characterized by hyperphosphatemia and vascular calcification (VC).
Bhaskaran, Manoj, Cass, Taryn A., Clinkenbeard, Erica L., Cramer, Martin S., Hum, Julia M., Johnson, Robert L., O’Bryan, Linda M., Smith, Rosamund C., Tatiparthi, Arun K., White, Kenneth E., Wilson, Jonathan M.   +10 more
core   +1 more source

Challenging diagnosis and successful management of phosphaturic mesenchymal tumor mimicking ankylosing spondylitis: A case report

International Journal of Rheumatic Diseases, Volume 27, Issue 3, March 2024.
Yuan Zhang, Jiang Zhu, Xuemeng Chen, Ganping Bai, Yu Du, Qinghua Zou   +5 more
wiley   +1 more source

Increased renal catabolism of 1,25-dihydroxyvitamin D3 in murine X-linked hypophosphatemic rickets. [PDF]

, 1988
Harriet S. Tenenhouse, Agatha Yip, Glenville Jones   +2 more
openalex   +1 more source

Somatic and Germline Mosaicism for a Mutation of the PHEX Gene Can Lead to Genetic Transmission of X-Linked Hypophosphatemic Rickets That Mimics an Autosomal Dominant Trait [PDF]

, 2006
Katsumi Goji, Kayo Ozaki, Ahmad Hamim Sadewa, Hisahide Nishio, Masafumi Matsuo   +4 more
openalex   +1 more source

Genotype–phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling

, 2021
Yasuki Ishihara, Yasuhisa Ohata, Shinji Takeyari, Taichi Kitaoka, Makoto Fujiwara, Yukako Nakano, Kenichi Yamamoto, Chieko Yamada, Katsusuke Yamamoto, Toshimi Michigami, Hiroyo Mabe, Takeshi Yamaguchi, Katsuyuki Matsui, Izumi Tamada, Noriyuki Namba, Akiko Yamamoto, Junya Etoh, Azusa Kawaguchi, Rieko Kosugi, Keiichi Ozono, Takuo Kubota   +20 more
openalex   +1 more source

Management Of Hypophosphatemic Rickets With Oral Manifestations In Children

International Dental Journal
Introduction: Hypophosphatemic rickets (HR) is a metabolic disorder affecting bone and teeth. X-linked hypophosphatemic rickets (XLH) is the most common form, characterized by skeletal deformities and dental mineralization defects leading to pulpitis and
Yan Wang, Dingwei Ye
doaj   +1 more source

Safety and Effectiveness of Stoss Therapy in Children with Vitamin D Deficiency [PDF]

, 2020
Objectives: Paediatric vitamin D (25-hydroxyvitamin D - 25OHD) deficiency can lead to nutritional rickets and extra-skeletal complications. Compliance with daily therapy can be difficult, making high dose, short-term vitamin D (stoss) therapy attractive ...
Tannous, Paul
core   +1 more source