Results 51 to 60 of about 11,040 (189)

X-linked Hypophosphatemic Rickets: a New Mutation

, 2021
Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets.
Sousa, H, Maio, P, Mano, L, Abranches, M, Rocha, S, Parente Freixo, J, Francisco, T, Baeta Baptista, R   +7 more
core   +2 more sources

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

X-linked Hypophosphatemic Rickets

Medical Archives, 2013
The aim of this work was the presentation of one case with X-linked hypophosphatemic rickets.Diagnosis has been established based on the anamnesis, physical examination, anthropometric measurements, laboratory tests and radiological examination.A male patient (age 3 years) has been hospitalized due to the growth delay, bone deformity, bone pain and ...
Mehmedali, Azemi, Majlinda, Berisha, Selim, Kolgeci, Vlora, Ismaili-Jaha, Rina, Hoxha, Teuta, Hoxha-Kamberi   +5 more
openaire   +2 more sources

A bedridden young lady with hypophosphatemic rickets treated with denosumab: a case report

Journal of Medical Case Reports, 2021
Background Hypophosphatemic rickets is associated with delayed walking, bone deformities, growth failure and physical dysfunction that can limit daily activities. Treatment consists of phosphate salts and calcitriol.
Butheinah A. Al-Sharafi, Nuha A. Al-Yousfi, Said A. Bamashmus   +2 more
doaj   +1 more source

Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source

Hypophosphatemic Rickets/ Osteomalacia: A Case Report and Review of Literature [PDF]

, 2014
Hypophosphatemic rickets/ osteomalacia comprises of a group of disorders of bone mineralization caused due to defect in renal handling of phosphorus. The group includes X linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and ...
Kotwal, Col. Narendra, Pandit, Aditi, Kumar, Yogesh, Upreti, Vimal   +3 more
core  

Microstructural Evidence for Early Childhood Stress in a Community in Transition at Hisban, Jordan

American Journal of Biological Anthropology, Volume 190, Issue 2, June 2026.
ABSTRACT Objectives Identification of stress across infancy and childhood can reflect maternal and environmental influences on early life health. In the 19th century community of Hisban, many infants died before 2 years of age with evidence of metabolic disease, including rickets, that likely ties with maternal health.
Kristina Cockerille, Akacia Propst, Bonnie Kahlon, Daniel Temple, Megan Perry   +4 more
wiley   +1 more source

Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets

, 2017
Tertiary hyperparathyroidism is a rare complication of X-linked hypophosphatemic rickets. The surgical treatment is already unclear. How to cite this article Ruiz EC, Cebrián JMF, Vega L, Linacero S, Celi E, Quintáns A.
Santiago Linacero, Jose Maria Fernandez Cebrian, Laura Vega, Edgardo Celi, Antonio Quintáns, Enrique Colás Ruiz   +5 more
core   +1 more source

Longitudinal Single‐Cell Transcriptomic Profiling Reveals Dynamic Immune Cell Alterations During Burosumab Therapy in X‐Linked Hypophosphatemia

Pediatric Discovery, Volume 4, Issue 2, June 2026.
This longitudinal single‐cell study reveals dynamic immune remodeling during burosumab therapy in pediatric X‐linked hypophosphatemia (XLH), highlighting coordinated changes in T cell subtypes (Th2, Th17, and Treg) and natural killer cell subtypes (NK2 and NK3) and immune pathways linked to osteoclast differentiation and treatment response.
Yue Xie, Li Li, Rong Li, Yihong Sun, Ting Zhou, Yupeng Cun, Gaohui Zhu   +6 more
wiley   +1 more source

Hypophosphatemic rickets: easy to diagnose, difficult to treat

, 1999
Hypophosphatemic Rickets (HR) has generated a lot of interest in recent times. There is need to recognize this disorder and differentiate it from the more common nutritional rickets because the therapy is different. It is also important to emphasize that
Tandon, Nikhil, Garg, Rajesh, Garg, Rajesh Kumar   +2 more
core   +1 more source