Results 161 to 170 of about 7,233,987 (192)

Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia

Pediatric Nephrology, 2006
X-linked hypophosphatemia is an X-linked dominant disorder resulting from a mutation in the PHEX gene. PHEX stands for phosphate-regulating gene with endopeptidase activity, which is located on the X chromosome. Patients with X-linked hypophosphatemia have hypophosphatemia due to renal phosphate wasting and low or inappropriately normal levels of 1,25 ...
Michel, Baum, Ashu, Syal, Raymond, Quigley, Mouin, Seikaly   +3 more
openaire   +2 more sources

Serum Parathyroid Hormone in X-Linked Hypophosphatemia

Science, 1971
Serum immunoreactive parathyroid hormone (IPTH) is normal in patients with X-linked hypophosphatemic rickets who are not treated with phosphate salts. Phosphate raises IPTH in these patients. Endogenous IPTH does not influence the existing defect in tubular reabsorption of phosphate in male patients.
C, Arnaud, F, Glorieux, C, Scriver
openaire   +2 more sources

New insights into X-linked hypophosphatemia

Current Opinion in Nephrology and Hypertension, 1997
X-linked hypophosphatemia is a heritable form of rickets characterized biochemically by phosphaturia and abnormal bioactivation of vitamin D. Recent advances include the observation, using kidney cells from the X-linked hypophosphatemia mouse model (Hyp), that in-vitro renal phosphate transport is normal yet bone mineralization may be intrinsically ...
openaire   +2 more sources

X-Linked hypophosphatemia. A phenotype in search of a cause

International Journal of Biochemistry, 1992
XLH is an important disease, it is the subject of several classic articles in the medical sciences (Scriver et al., 1991), and it has been an important stimulus to study renal hypophosphatemias and how they are involved in rickets and osteomalacia (Scriver, 1974; Scriver and Tenenhouse, 1991).
H S, Tenenhouse, C R, Scriver
openaire   +2 more sources

X-linked hypophosphatemia

Digital Doctor, 2022
openaire   +1 more source

X-linked hypophosphatemia, fibroblast growth factor 23 signaling, and craniosynostosis

Experimental Biology and Medicine, 2023
Todd Alexander, Chelsey Grimbly, Daniel Graf   +2 more
exaly  

Musculoskeletal Features in Adults With X-linked Hypophosphatemia: An Analysis of Clinical Trial and Survey Data

Journal of Clinical Endocrinology and Metabolism, 2022
Karl Insogna, Muhammad K. Javaid, Rafael Pinedo-Villanueva   +2 more
exaly  

Body composition and cardiometabolic health of pediatric patients with X-linked hypophosphatemia (XLH) under burosumab therapy

Therapeutic Advances in Endocrinology and Metabolism, 2021
Yael Lebenthal, Livia Kapusta, Avivit Brener   +2 more
exaly  

Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia

Journal of Clinical Endocrinology and Metabolism, 2023
Olaf Hiort, Mirko Rehberg, Sabine Heger
exaly  

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)

Human Mutation, 2022
Yves Sabbagh, Erik A Imel
exaly