Results 101 to 110 of about 2,648 (201)

Role of GDF5 in enthesopathy development in the Hyp mouse model of X-linked hypophosphatemia (XLH)

X-linked hypophosphataemia (XLH) is the most common form of inherited rickets that leads to deformities in the lower limbs, poor tooth and skeletal mineralization, and disproportionate short stature in children.
Sorsby, Melissa
core   +1 more source

Role of Local Growth Plate Mechanisms and Systemic Endocrine Signals in X-Linked Hypophosphatemia (XLH) Impaired Linear Growth

Endocrines
Background/Objectives: X-linked hypophosphatemia (XLH), the most frequent heritable cause of hypophosphatemic rickets, is characterized by impaired linear growth and skeletal deformities, that can lead to disproportionate short stature.
Michela Ferrarese, Valentina Camozzi, Laura Guazzarotti   +2 more
doaj   +1 more source

A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia

Frontiers in Health Services
IntroductionX-linked hypophosphataemia (XLH) is a rare, genetic, renal phosphate wasting disorder that causes a lifelong rapid progression of morbidities, which are associated with substantial humanistic and economic burden.
Rafael Pinedo-Villanueva, Muhammad K. Javaid, Angela Williams, Isabelle Whittle, Matilde Franceschini, Ben Johnson   +5 more
doaj   +1 more source

Medical Management of children and young people with X-linked Hypophophatemia (XLH) and its impact on dental manifestations: A scoping review

The aim of this review is to explore the available literature on medical management of children and young people with XLH. The review will systematically scope the extent of published studies focusing on the nature, range and extent of empirical research
Basmah AlOtaibi
core   +1 more source

X-linked Hypophosphatemia (XLH) Mimicking Rheumatic Disease

Internal Medicine, 2020
Takase, Ryosuke, Nakano, Yasuhiro, Hasegawa, Kosei, Otsuka, Fumio   +3 more
openaire   +3 more sources

Real‐world data of Brazilian adults with X‐linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts

Background Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency.
Larissa L. M. Marques, Antônio César Paulillo deCillo, Marcia Ribeiro, Paula Frassinetti V. deMedeiros, Maria Helena Vaisbich, Juliana M. C. M. deAlmeida, Mauro Borghi M. daSilva, Bárbara Campolina C. Silva, Érico Higino deCarvalho, Pedro Henrique Mendes, Catarina Brasil DÁlva   +10 more
core   +1 more source

The daily life of adults with X-linked Hypophosphatemia (XLH) in Brazil

A hipofosfatemia ligada ao X (XLH) é uma condição genética rara que afeta a saúde física e social dos indivíduos com essa condição. Este estudo teve como objetivo compreender o cotidiano de adultos com XLH.
Vasconcelos, Raquel Sabbatini [UNIFESP]
core  

Characterization of lower limb deformities in children and adolescents with XLH

Bone Reports, 2022
Adalbert Raimann, Alexandra Stauffer, Stefan Penzkofer, Rudolf Ganger, Christof Radler, Gabriel T. Mindler   +5 more
openaire   +1 more source

1,25-Dihydroxyvitamin D as Monotherapy for XLH: Back to the Future? [PDF]

Journal of Bone and Mineral Research, 2016
Diana, Ovejero, Rachel I, Gafni, Michael T, Collins   +2 more
openaire   +2 more sources

Overview of stakeholders involved in co-design of mixed-methods real-world study about the lived experience of adolescents with XLH at the end of skeletal growth.

Overview of stakeholders involved in co-design of mixed-methods real-world study about the lived experience of adolescents with XLH at the end of skeletal growth.
Pol Harvengt (17816963), Fiona Glen (6307181), Elin Haf Davies (11149179), Annemieke M. Boot (17816960), Vrinda Saraff (12270904), Angela J. Rylands (17816972), Angela Williams (292362), Sue Wood (17816966), Oliver Semler (15260698), Agnès Linglart (381330), Stephen Greentree (17816969), Karen M. A. Bailey (11100504)   +11 more
core   +1 more source