Results 11 to 20 of about 7,727 (215)

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X-Linked Hypophosphatemic Rickets. [PDF]

Adv Sci (Weinh)
The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Wu H, Zhao W, Chen X, Wang Y, Wei S, Xiang B, Shi Y, Li Z, Yao Y, Xie J, Qiu R, Shu M, Xu S, Chen P, Chen Z, Wu Y, Xia W, Gao L, Song Y, Zhao J, Xu C.   +20 more
europepmc   +4 more sources

Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome [PDF]

Case Reports in Pathology, 2011
Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular ...
Mahua Roy, K. Bose, D. K. Paul, Puja Anand   +3 more
doaj   +2 more sources

A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene.
Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo   +5 more
doaj   +3 more sources

Hypophosphatemic Rickets: Revealing Novel Control Points for Phosphate Homeostasis [PDF]

, 2014
Rapid and somewhat surprising advances have recently been made towards understanding the molecular mechanisms causing heritable disorders of hypophosphatemia.
Kenneth E. White, Julia M. Hum, Michael J. Econs   +2 more
openalex   +4 more sources

FGF23‐related hypophosphatemic rickets preceding the onset of systemic lupus erythematosus: A juvenile case [PDF]

Clinical Case Reports
Key Clinical Message This case report describes the clinical course of a juvenile female with FGF23‐related hypophosphatemic rickets preceding the onset of SLE. Our study demonstrates the possibility of hypophosphatemic rickets as an early symptom of SLE.
Yoko tabei, Yoshiaki Ohtsu, Masaharu Shimada, Aya Wada, Emi Hamajima, Yoshimitsu Osawa, Takumi Takizawa   +6 more
doaj   +2 more sources

Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets [PDF]

Bone Reports
Hypophosphatemic rickets, which is often hereditary, is still under- or misdiagnosed in both children and adults, denying these individuals access to optimal management and genetic counseling.
Deepti Chaturvedi, Taif EmadEldin Mehasi, Assia Benbrahim, Lubna ElDeeb, Asma Deeb   +4 more
doaj   +2 more sources

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report [PDF]

Orphanet Journal of Rare Diseases, 2010
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to
Pérez-Menéndez Teresa M, Coto Eliecer, Gil-Peña Helena, Mejia-Gaviria Natalia, Santos Fernando   +4 more
doaj   +2 more sources

Predictive factors for recurrence after lower limb deformity correction in hypophosphatemic rickets [PDF]

Journal of Orthopaedic Surgery and Research, 2023
Background Surgical treatment for severe lower limb deformities in patients with hypophosphatemic rickets has shown satisfactory outcomes. However, the rates of recurrence of deformities after surgical correction were high, and studies on predictive ...
Chayut Suparatchatadej, Nath Adulkasem, Thanase Ariyawatkul, Perajit Eamsobhana, Chatupon Chotigavanichaya, Jidapa Wongcharoenwatana   +5 more
doaj   +2 more sources

Osteocytes and the pathogenesis of hypophosphatemic rickets [PDF]

Frontiers in Endocrinology, 2022
Since phosphorus is a component of hydroxyapatite, its prolonged deprivation affects bone mineralization. Fibroblast growth factor 23 (FGF23) is essential for maintaining phosphate homeostasis and is mainly produced by osteocytes.
Miwa Yamazaki, Toshimi Michigami
doaj   +2 more sources

3D-printed model combined with the Ilizarov technique in the treatment of genu varum in children with hypophosphatemic rickets [PDF]

Journal of Orthopaedic Surgery and Research
Introduction Genu varum in children with hypophosphatemic rickets are complex and always occur on multiple planes, which are difficult to correct. This present study is aimed to retrospectively explore the feasibility and efficacy of 3D-printed model ...
Shu Chen, Bin Gao, Qiang Shi
doaj   +2 more sources