Results 41 to 50 of about 1,955 (223)

Validation of a novel scoring system for changes in skeletal manifestations of hypophosphatasia in newborns, infants, and children: The Radiographic Global Impression of Change scale [PDF]

, 2018
Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase.
Fujita, Kenji P, McAlister, William H, Moseley, Scott, Thompson, David D, Whyte, Michael P   +4 more
core   +2 more sources

The Possible Outcomes of Poor Adherence to Conventional Treatment in Patients with X-Linked Hypophosphatemic Rickets/Osteomalacia

Endocrines, 2023
X-linked hypophosphatemic rickets/osteomalacia is an inherited disease caused by the loss of function in PHEX. Elevated plasma FGF23 in patients with XLH leads to hypophosphatemia.
Hiroaki Zukeran, Kento Ikegawa, Chikahiko Numakura, Yukihiro Hasegawa   +3 more
doaj   +1 more source

Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study

Frontiers in Endocrinology, 2022
BackgroundGait deviations, lower limb pain and joint stiffness represent key symptoms in patients with X-linked hypophosphatemia (XLH, OMIM 307800), a rare disorder of mineral homeostasis.
Gabriel T. Mindler, Gabriel T. Mindler, Alexandra Stauffer, Alexandra Stauffer, Andreas Kranzl, Andreas Kranzl, Stefan Penzkofer, Rudolf Ganger, Rudolf Ganger, Christof Radler, Christof Radler, Gabriele Haeusler, Gabriele Haeusler, Adalbert Raimann, Adalbert Raimann   +14 more
doaj   +1 more source

FGF23 and Hypophosphatemic Rickets/Osteomalacia [PDF]

, 2022
Purpose of review X-linked hypophosphatemia and tumor-induced osteomalacia are diseases characterized by hypophosphatemia with impaired proximal tubular phosphate reabsorption.
Fukumoto, Seiji, Kawanami, Daiji, Takashi, Yuichi   +2 more
core  

OR13-2 Burosumab Resulted in Greater Improvement in Rickets Than Conventional Therapy in Children with X-Linked Hypophosphatemia (XLH) [PDF]

, 2019
XLH is characterized by excess FGF23, hypophosphatemia, skeletal deformities, and growth impairment. For the last 40 years, XLH has been treated with multiple daily doses of oral phosphate and active vitamin D (Pi/D).
Chen, Chao-Yin, Cheong, Hae Il, Glorieux, Francis, Imel, Erik, Mao, Meng, Munns, Craig, Namba, Noriyuki, Nilsson, Ola, Padidela, Raja, Portale, Anthony, San Martin, Javier, Simmons, Jill, Skrinar, Alison, Ward, Leanne, Whyte, Michael   +14 more
core   +1 more source

The role of small RNAs in Paget's associated osteosarcoma [PDF]

, 2018
Small RNAs (sRNAs) are a class of non-coding RNA molecules that arekey regulators of gene expression. SRNAs are also specific biomarkersdue to their dysregulation in disease.
Green, Darrell, Dalmay, Tamas, Fraser, William   +2 more
core   +2 more sources

Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations

Endocrine Connections, 2020
X-linked hypophosphataemia (XLH) is caused by a pathogenic variant in the PHEX gene, which leads to elevated circulating FGF23. High FGF23 causes hypophosphataemia, reduced active vitamin D concentration and clinically manifests as rickets in children ...
Raja Padidela, Moira S Cheung, Vrinda Saraff, Poonam Dharmaraj   +3 more
doaj   +1 more source

Two Cases of Tumor-induced Osteomalacia Resulting in Surgical Resection during Burosumab Therapy [PDF]

Intern Med
Dai Nagata, Yuichi Takashi, Mayuko Yamamoto, Kyoko Toyokawa, Kiyoshi Makihata, Haruki Koganemaru, Saki Hideshima, Yoshimi Muta, Hisashi Yokomizo, Hironori Fukumoto, Shizuhide Nakayama, Hiroko Muta, Mikiko Aoki, Hiroshi Abe, Takuaki Yamamoto, Makoto Hamasaki, Daiji Kawanami   +16 more
openalex   +3 more sources

Effects of burosumab on osteocalcin and bone mineral density in patient with 15-year history of nonremission tumor-induced osteomalacia initially treated with conventional therapy: Case report

Bone Reports, 2020
Excess fibroblast growth factor 23 (FGF23) causes hypophosphatemic osteomalacia, which is associated with impaired bone matrix mineralization. Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by over-secretion of FGF23 from a ...
Daichi Miyaoka, Yasuo Imanishi, Masahiro Yano, Norikazu Toi, Yuki Nagata, Masafumi Kurajoh, Shinsuke Yamada, Tomoaki Morioka, Masanori Emoto   +8 more
doaj   +1 more source

Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia

JCRPE, 2022
X-linked hypophosphatemia (XLH) is a rare genetic disorder with X-linked dominant inheritance. Mutations in the PHEX gene increase fibroblast growth factor 23 (FGF23) concentrations, causing loss of phosphorus at the proximal tubule.
Ana Castellano-Martinez, Silvia Acuñas-soto, Virginia Roldan-cano, Moises Rodriguez-Gonzalez   +3 more
doaj   +1 more source