Results 1 to 10 of about 2,648 (201)

Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program [PDF]

Frontiers in Endocrinology
X-linked hypophosphatemia (XLH) is a rare, genetic, progressive, lifelong disorder caused by pathogenic variants in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in excess fibroblast growth factor 23 (FGF23) and ...
Keiichi Ozono, Erik A Imel, Maria Luisa Brandi   +2 more
exaly   +6 more sources

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

Endocr Connect
Purpose: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by PHEX mutations, leading to hypophosphatemia and impaired bone mineralization.
Di Paola A, Palumbo S, Argenziano L, Di Feo G, Aiello F, Di Domenico O, Cirillo G, Pietropaolo G, Marrapodi MM, Miraglia Del Giudice E, Rossi F, Grandone A.   +11 more
europepmc   +3 more sources

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

Clin Med Insights Endocrinol 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).
Seefried L, Al Badi M, Frookh H, Al-Sagheir A, Fiad TM, Deeb A, Al Sumaily A, Attia N, Habeb A, Alzahrani A, Mughal MZ.   +10 more
europepmc   +3 more sources

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data [PDF]

Orphanet Journal of Rare Diseases, 2023
Background X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which can adversely
Maria Carola Zillikens, Signe Sparre Beck-Nielsen, Gema Ariceta   +2 more
exaly   +5 more sources

The PHEX deletion variant (p.Thr605MetfsTer14) causes X-linked hypophosphatemic rickets by reducing protein expression and promoting mineralization. [PDF]

Orphanet J Rare Dis
Background X-linked hypophosphatemic rickets (XLH, OMIM: 307800) is the most prevalent hereditary ricket characterized by hypophosphatemia, rickets, and osteomalacia. XLH resulted from pathogenic variants in PHEX gene.
Gan Z, Zheng M, Guo C, He F, Zheng Y, Li J, Li C, Yang F, Song Q, Chang Q, Liu Q, Xiong F, Xie H.   +12 more
europepmc   +2 more sources

Dental health of patients with X-linked hypophosphatemia: A controlled study

Frontiers in Oral Health, 2023
ObjectiveThe present study compared the dental health of patients with X-linked hypophosphatemia (XLH) with healthy age- and gender-matched controls to increase our knowledge of the impact of XLH on oral health.Materials and methodsTwenty-two adult ...
Amila Larsson, Amila Larsson, Tobias Regnstrand, Pia Skott, Pia Skott, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Sigridur Björnsdottir, Sigridur Björnsdottir, Karin Garming-Legert   +10 more
doaj   +1 more source

X-Linked Hypophosphatemia Transition and Team Management

Endocrines, 2022
X-linked hypophosphatemia (XLH) is the most common form of inherited disorders that are characterized by renal phosphate wasting, but it is a rare chronic disease.
Takuo Kubota
doaj   +1 more source

Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review

JBMR Plus, 2023
Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X‐linked hypophosphatemia (XLH), is less common and is
Craig F Munns, Edward P Maguire, Angela Williams, Sue Wood, Andrew Biggin   +4 more
doaj   +1 more source

Presentation and Diagnosis of Pediatric X-Linked Hypophosphatemia

Endocrines, 2023
X-linked hypophosphatemia (XLH) is a rare type of hereditary hypophosphatemic rickets. Patients with XLH have various symptoms that lower their QOL as defined by HAQ, RAPID3, SF36-PCS, and SF36-MCS in adult patients and SF-10 and PDCOI in pediatric ...
Kento Ikegawa, Yukihiro Hasegawa
doaj   +1 more source

A Case of X-Linked Hypophosphatemic Rickets with Dentin Dysplasia in Mandibular Third Molars

Children, 2022
X-linked hypophosphatemic rickets (XLH) is a disease characterized by impaired bone mineralization, and its dental features include gingival abscesses and large pulp spaces due to dentin dysplasia.
Rena Okawa, Masakazu Hamada, Misato Takagi, Saaya Matayoshi, Kazuhiko Nakano   +4 more
doaj   +1 more source