Results 1 to 10 of about 2,313 (134)

A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022) [PDF]

Orphanet Journal of Rare Diseases
Background Familial hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health and social life.
Frank Hernández-García, Helena Gil-Peña, José M. López, Rocío Fuente, Patricia Oro Carbajosa, Ibraín Enrique Corrales-Reyes, Julián Rodríguez Suárez   +6 more
doaj   +2 more sources

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. [PDF]

PLoS ONE, 2018
Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed.Clinical features and mutation spectrum were ...
Sezer Acar, Huda A BinEssa, Korcan Demir, Roua A Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F Al-Enezi, Seçil Özışık, Manar S A Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E Tamimi, Brian F Meyer, Ece Böber, Yufei Shi   +18 more
doaj   +6 more sources

Disorders of bone and mineral metabolism in pregnancy and lactation: A case based clinical review [PDF]

Osteoporosis and Sarcopenia
Bone and mineral metabolism in the human body undergoes significant adaptations during pregnancy and lactation to meet the physiological demands of both the mother and fetus.
Manju Chandran, Sarah Ying Tse Tan
doaj   +2 more sources

Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature [PDF]

Frontiers in Endocrinology
IntroductionFamilial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder caused by an inactivating mutation in the CASR gene, while Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder resulting from a pathogenic ...
Taoyuan He, Taoyuan He, Xinyu Li, Guosheng Li, Wanyang Wang, Hongjun Fu, Zhengnan Gao, Xuhan Liu   +7 more
doaj   +2 more sources

X-Linked Hypophosphatemia in a Family Cohort: Clinical Variability, Genetic Confirmation and Modern Therapeutic Perspectives. [PDF]

J Clin Med
Background/Objectives: X-linked hypophosphatemia (XLH) is the most common form of inherited rickets, caused by pathogenic mutations in the PHEX gene (phosphate-regulating endopeptidase homolog, X-linked). These mutations increase fibroblast growth factor 23 (FGF23) activity, resulting in renal phosphate wasting and defective bone mineralization.
Popa O, Balaș M, Golu I, Amzăr D, Dorogi C, Vlad M.   +5 more
europepmc   +4 more sources

Real-World Clinical and Healthcare Resource Burden Among Burosumab-Naïve Patients With Familial Hypophosphatemia. [PDF]

J Endocr Soc
Abstract Objective To examine the real-world clinical and healthcare resource burden of familial hypophosphatemia (FH). Methods In a retrospective, observational cohort study using MarketScan claims data from 2017 to 2021, clinical ...
Imel EA, Li Z, Heerssen HM, Princic N, Schwartz H, Zhao Y, Dahir KM.   +6 more
europepmc   +3 more sources

Delayed diagnosis of X-linked hypophosphatemia in the absence of family history: a global unmet need. [PDF]

JBMR Plus
Abstract X-linked hypophosphatemia (XLH) is a phosphate-wasting disorder mediated by increased fibroblast growth factor 23 (FGF23) activity. Typical clinical features are skeletal deformities, muscle weakness, stiffness, and impaired physical function.
Uday S, Mughal MZ, Cassinelli H, Florenzano P, Imel EA, Simmons J, Ward LM, Tewari S, Ciğeroğlu O, Li Z, Johnson B, Sandilands K, Carpenter TO.   +12 more
europepmc   +3 more sources

Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few
Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak   +8 more
doaj   +1 more source

Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia

Frontiers in Endocrinology, 2022
ObjectiveThe aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of PHEX gene mutations, of 22 and 7 patients with familial ...
Tian Xu, Xiaohui Tao, Zhenlin Zhang, Hua Yue   +3 more
doaj   +1 more source

Wnt pathway inhibitors are upregulated in XLH dental pulp cells in response to odontogenic differentiation

International Journal of Oral Science, 2023
X-linked hypophosphatemia (XLH) represents the most common form of familial hypophosphatemia. Although significant advances have been made in the treatment of bone pathology, patients undergoing therapy continue to experience significantly decreased oral
Elizabeth Guirado, Cassandra Villani, Adrienn Petho, Yinghua Chen, Mark Maienschein-Cline, Zhengdeng Lei, Nina Los, Anne George   +7 more
doaj   +1 more source