Results 21 to 30 of about 1,327 (129)

Burosumab - new potent treatment for X-linked hypophosphatemia and tumor-induced osteomalacia

Journal of Education, Health and Sport, 2023
Introduction and purpose: Elevated FGF23 in X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) leads to systemic hypophosphatemia, several musculoskeletal manifestations and rickets in children. In this review we describe advances in
Magda Wojtuś, Sebastian Tomaszuk, Karolina Wąsik   +2 more
doaj   +1 more source

X-linked hypophosphatemic rickets: from diagnosis to management [PDF]

Clinical and Experimental Pediatrics
X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts ...
Eujin Park, Hee Gyung Kang
doaj   +1 more source

Fifty Years of Misdiagnosis: Two Sisters with X-Linked Hypophosphatemia Misdiagnosed as Achondroplasia

Endocrinology Research and Practice
X-linked hypophosphatemia (XLH) is the most common inherited form of hypophosphatemic rickets, caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene.
Esra Eraslan Aydemir, Şerife Özkarakoç Ertürk, Can Berk Leblebici, Halil Gürhan Karabulut, Özgür Demir   +4 more
doaj   +3 more sources

Treatment of X-Linked Hypophosphatemia in Children

Endocrines, 2022
The conventional treatment for X-linked hypophosphatemia (XLH), consisting of phosphorus supplementation and a biologically active form of vitamin D (alfacalcidol or calcitriol), is used to treat rickets and leg deformities and promote growth.
Toshihiro Tajima, Yukihiro Hasegawa
doaj   +1 more source

Spatial metabolomics reveals upregulation of several pyrophosphate-producing pathways in cortical bone of Hyp mice

JCI Insight, 2022
Patients with the renal phosphate–wasting disease X-linked hypophosphatemia (XLH) and Hyp mice, the murine homolog of XLH, are characterized by loss-of-function mutations in phosphate-regulating endopeptidase homolog X-linked (PHEX), leading to excessive
Achim Buck, Verena M. Prade, Thomas Kunzke, Reinhold G. Erben, Axel Walch   +4 more
doaj   +1 more source

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 due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia

Bone Reports
X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and ...
Maria Fourikou, Aristea Karipiadou, Athina Ververi, Parthena Savvidou, Nikolaos Laliotis, Vassilios Tsitouras, Stella Stabouli, Emmanuel Roilides, Konstantinos Kollios   +8 more
doaj   +1 more source

Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed-Methods Study

Journal of Patient-Centered Research and Reviews, 2020
Purpose: X-linked hypophosphatemia (XLH) is a rare X-linked dominant metabolic bone disease, often diagnosed in childhood but causing increasing physical debilitation and pain in adulthood. Physical comorbidities of XLH in adulthood include pervasive and
Melissa Hughes , Carolyn Macica, Catherine Meriano, Maya Doyle   +3 more
doaj   +1 more source

Disrupted Protein Expression and Altered Proteolytic Events in Hypophosphatemic Dentin Can Be Rescued by Dentin Matrix Protein 1

Frontiers in Physiology, 2020
Dentin, one of the four mineralized tissues of the craniofacial complex, forms sequentially from the deposition of an organic matrix to the nucleation of an inorganic phase within the matrix scaffold.
Elizabeth Guirado, Yinghua Chen, Ryan D. Ross, Youbin Zhang, Catherine Chaussain, Catherine Chaussain, Anne George   +6 more
doaj   +1 more source

Inflammatory myofibroblastic tumor in a patient with X-Linked hypophosphatemia: A case of Occam's razor or Hickam's dictum?

Urology Case Reports
We present the case of a patient with X-Linked Hypophosphatemia (XLH) and an inflammatory myofibroblastic tumor (IMT) of the bladder which prompted further investigation into the possible relationship between XLH and IMT i.e.
Farhan Chowdry, Kelsey M. Miller, Ersan Altun, Sara E. Wobker, Gary S. Gottesman, Hikmat Al-Ahmadie, Tracy L. Rose, Eric M. Wallen, Matthew I. Milowsky   +8 more
doaj   +1 more source