Results 31 to 40 of about 2,648 (201)

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

Roles of the Phosphate-regulating Proteins, PHEX and DMP1, in the Dentin Matrix of XLH

, 2022
X-linked hypophosphatemia (XLH) is the most common hereditary hypophosphatemic disorder resulting from loss-of-function of the phosphate-regulating endopeptidase, PHEX.
Elizabeth Guirado (2155405)
core   +1 more source

Dental and periodontal features and management in XLH children and adults

International Journal of Bone Fragility, 2021
The formation and homeostasis of the mineralized tissues that make up the tooth and its periodontium show many similarities, but also differences, with respect to bone tissue. Accordingly, oral manifestations are often present in skeletal diseases. The manifestations in X-linked hypophosphatemia (XLH) are a good illustration of the potential impact of ...
Biosse Duplan, Martin, Le Norcy, Elvire, Courson, Frédéric, Chaussain, Catherine   +3 more
openaire   +1 more source

Health-related quality of life in French adults with X-linked hypophosphatemia: real-world data from the International XLH Registry. [PDF]

JBMR Plus
International audienceAbstract X-linked hypophosphatemia (XLH) is a rare genetic condition in which excess fibroblast growth factor 23 causes renal phosphate wasting, leading to skeletal morbidities.
Briot K, Lemoine S, Cortet B, Szafors P, Mehsen N, Couture G, Sandilands K, Rylands AJ, Ishii H, Bowden A, Dent JE, Kamenicky P.   +11 more
europepmc   +2 more sources

FGF23 and its role in X-linked hypophosphatemia-related morbidity

Orphanet Journal of Rare Diseases, 2019
Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired ...
Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala, Outi Mäkitie   +9 more
doaj   +1 more source

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

The Diagnosis and Therapy of XLH

Calcified Tissue International
Abstract X-linked hypophosphatemia is a rare genetic disease caused by pathogenic variants in the  PHEX (phosphate-regulating endopeptidase homolog X-linked) gene with X-linked dominant inheritance that causes metabolic bone disease and other severe complications.
Ineke Böckmann, Dieter Haffner
openaire   +2 more sources

SUN-363 Hypophosphatemia Gene Panel Sponsored Program: A High Yield Of Molecular Diagnoses from Clinically Confirmed XLH and Suspected XLH/ Genetic Hypophosphatemia [PDF]

Journal of the Endocrine Society, 2020
Abstract X-linked hypophosphatemia (XLH), an X-linked dominant disorder caused by a pathogenic change (variant) in the PHEX gene, affects males and females of all ages. Rickets and osteomalacia may be present along with short stature, lower limb deformity, muscle pain and/or weakness/fatigue, bone pain, joint pain/stiffness, hearing ...
Miller, Nicole, Dahir, Kathryn, Beltran, Daniel, Eisenbeis, Scott J, Ramesan, Prameela, Rush, Eric T, Sarafrazi, Soodabeh, Truty, Rebecca, Johnson, Britt   +8 more
openaire   +1 more source

Extended Conventional Therapy In Adult Xlh Patients [PDF]

, 2015
Context: Treatment of X-linked hypophosphatemia (XLH) with active vitamin D metabolites and phosphate can partially correct skeletal deformities. It is unclear if therapy influences the occurrence of two major long-term morbidities in XLH: enthesopathy ...
Connor, Jessica Ann
core   +1 more source

Burosumab and Dental Abscesses in Children With X‐Linked Hypophosphatemia

JBMR Plus, 2022
X‐linked hypophosphatemia (XLH) is a rare genetic disorder that disrupts skeletal and dental mineralization. In addition to rickets in children, XLH patients also have frequent spontaneous dental abscesses that increase the risk of tooth loss and may ...
Margaux Gadion, Agathe Hervé, Julia Herrou, Anya Rothenbuhler, Violaine Smail‐Faugeron, Frédéric Courson, Agnès Linglart, Catherine Chaussain, Martin Biosse Duplan   +8 more
doaj   +1 more source