Results 1 to 10 of about 1,327 (129)

Impact of stopping burosumab treatment at the end of skeletal growth in adolescents with X-linked hypophosphatemia (XLH) [PDF]

Bone Reports
Many adolescents with X-linked hypophosphatemia (XLH) currently have to stop treatment with burosumab at the end of skeletal growth. We describe the experience of a cohort of adolescents with XLH before, during, and after stopping burosumab (median ...
Annabel Nixon, Talat Mushtaq, Angela Williams   +2 more
exaly   +4 more sources

Effects of burosumab on macrophage polarization and TRPV1 expression in children with XLH [PDF]

Endocrine Connections
Purpose: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by PHEX mutations, leading to hypophosphatemia and impaired bone mineralization.
Alessandra Di Paola, Stefania Palumbo, Lucia Argenziano, Giuseppe Di Feo, Francesca Aiello, Oriana Di Domenico, Grazia Cirillo, Gaia Pietropaolo, Maria Maddalena Marrapodi, Emanuele Miraglia del Giudice, Francesca Rossi, Anna Grandone   +11 more
doaj   +2 more sources

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH) [PDF]

Human Mutation, 2022
Yves Sabbagh, Erik A Imel
exaly   +2 more sources

Body composition and cardiometabolic health of pediatric patients with X-linked hypophosphatemia (XLH) under burosumab therapy [PDF]

Therapeutic Advances in Endocrinology and Metabolism, 2021
Yael Lebenthal, Livia Kapusta, Avivit Brener   +2 more
exaly   +2 more sources

X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case [PDF]

Acta Neurochirurgica
Study design Systematic review. Objective X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by impaired phosphate homeostasis due to renal phosphate wasting.
Christian Czarnetzki, Caterina Mollica, Jeremie Buri, Kristof Egervari, Karl Schaller, Granit Molliqaj, Andrea Trombetti, Aria Nouri, Enrico Tessitore   +8 more
doaj   +2 more sources

XLH Matters 2024 GCC Edition: Insights and Recommendations to Improve Outcomes for People Living With XLH in the Gulf Region [PDF]

Clinical Medicine Insights: Endocrinology and Diabetes
The XLH Matters 2024 GCC Edition meeting convened 51 physicians from 6 Gulf countries to discuss the diagnosis and management of patients with X-linked hypophosphatemia (XLH).
Lothar Seefried, Maryam Al Badi, Hasan Frookh, Afaf Al-Sagheir, Tarek M. Fiad, Asma Deeb, Ahmad Al Sumaily, Najya Attia, Abdelhadi Habeb, Ali Alzahrani, M. Zulf Mughal   +10 more
doaj   +2 more sources

Complications and Treatments in Adult X-Linked Hypophosphatemia

Endocrines, 2022
X-linked hypophosphatemia (XLH) is a rare inherited disorder involving elevated levels of fibroblast growth factor (FGF) 23, and is caused by loss-of-function mutations in the PHEX gene. FGF23 induces renal phosphate wasting and suppresses the activation
Yasuo Imanishi, Tetsuo Shoji, Masanori Emoto   +2 more
doaj   +1 more source

X‐linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

Clinical Case Reports, 2022
X‐linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life.
Marcia Janneth Bermeo Cabrera, Pablo Roberto Ordoñez Chacha, Alfredo Adolfo Reza‐Albarrán, Ana Karina Ordoñez Chacha, Marcy Acosta Acero, Agustin Rodas Serrano   +5 more
doaj   +1 more source

Insights into the Molecular and Hormonal Regulation of Complications of X-Linked Hypophosphatemia

Endocrines, 2023
X-linked hypophosphatemia (XLH) is characterized by mutations in the PHEX gene, leading to elevated serum levels of FGF23, decreased production of 1,25 dihydroxyvitamin D3 (1,25D), and hypophosphatemia.
Supriya Jagga, Shreya Venkat, Melissa Sorsby, Eva S. Liu   +3 more
doaj   +1 more source

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

Frontiers in Genetics, 2022
X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550).
Yanting Yang, Yanting Yang, Yanting Yang, Yuanda Wang, Ying Shen, Mohan Liu, Siyu Dai, Siyu Dai, Siyu Dai, Xiaodong Wang, Xiaodong Wang, Hongqian Liu, Hongqian Liu, Hongqian Liu   +13 more
doaj   +1 more source