Results 121 to 130 of about 1,955 (223)

Correction to: Burosumab in X-linked hypophosphatemia: a profile of its use in the USA [PDF]

, 2018
Katherine A. Lyseng‐Williamson
openalex   +1 more source

Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report

Педиатрическая фармакология
Background. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate ...
Anna S. Nechaeva, Emma S. Grigoryan, Tatyana V. Turti, Tatiana E. Privalova, Nato D. Vashakmadze, Nina A. Krasnoshchekova   +5 more
doaj   +1 more source

Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome

, 2023
Lillian Abebe, Kim Phung, Marie‐Eve Robinson, Richelle C. Waldner, Sasha Carsen, Kevin Smit, Andrew Tice, Joanna Lazier, Christine M. Armour, Marika Pagé, Saunya Dover, Frank Rauch, Khaldoun Koujok, Leanne M. Ward   +13 more
openalex   +1 more source

Case report: Prolonged and severe hungry bone syndrome after parathyroidectomy in X-linked hypophosphatemia

Frontiers in Endocrinology
Tertiary hyperparathyroidism is characterized by hypercalcemia resulting from autonomous parathyroid hormone production and usually occurs after a prolonged period of secondary hyperparathyroidism.
Giulia Puliani, Valeria Hasenmajer, Matteo Spaziani, Matteo Spaziani, Federico Frusone, Chiara Tarantino, Francesco Angelini, Ludovica Vincenzi, Riccardo Lubrano, Alessia Marcellino, Marco Biffoni, Andrea M. Isidori, Andrea M. Isidori   +12 more
doaj   +1 more source

Genetic causes of hypophosphatemia [PDF]

Phosphate is a key component of mineralized tissues and is also part of many organic compounds. Phosphorus homeostasis depends especially upon intestinal absorption, and renal excretion, which are regulated by various hormones, such as PTH, 1,25 ...
Puente Ruiz, Nuria, Riancho Moral, José Antonio, Solis, Pablo   +2 more
core   +1 more source

ODP083 Burosumab Treatment for Fibrous dysplasia/McCune-Albright Syndrome with Severe Spine Deformity [PDF]

, 2022
Tetsuhiko Sato, Yoshinori Azuma, Ryoji Tauchi, Masaki Matsushita, Chikafumi Ozone   +4 more
openalex   +1 more source

Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series

Endocrinology, Diabetes & Metabolism Case Reports
X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14
Fahad Al-Juraibah, Adnan Al Shaikh, Afaf Al-Sagheir, Amir Babiker, Asma Al Nuaimi, Ayed Al Enezi, George S Mikhail, Hassan A Mundi, Hubert K Penninckx, Huda Mustafa, Majid Al Ameri, Mohamed Al-Dubayee, Nadia S Ali, Nagla Fawzy, Sameer Al Shammari, Tarek Fiad   +15 more
doaj   +1 more source

Burosumab [PDF]

, 2020
openaire   +1 more source

Dramatic Transformation After Burosumab in a Young Boy With X-linked Hypophosphatemia: A Life-Changing Saga [PDF]

, 2022
Krishna M. Baradhi
openalex   +1 more source

Burosumab in X-linked hypophosphatemia: a profile of its use in the USA [PDF]

, 2018
Katherine A. Lyseng‐Williamson
openalex   +1 more source