Results 31 to 40 of about 3,965 (174)
Persistent primary hyperparathyroidism: an uncommon location for an ectopic gland: Case report and review [PDF]
, 2012 Primary hyperparathyroidism (PHPT) is a common endocrine disorder that mainly affects middle-aged women. Patients are usually asymptomatic. The disease might be ascribable to hyperplasia, carcinoma, and single or multiple adenomas.
Albuquerque,Anabela +6 more
core +3 more sources
Iron and fibroblast growth factor 23 in X-linked hypophosphatemia [PDF]
, 2014 Background Excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia in autosomal dominant hypophosphatemic rickets (ADHR) and X-linked hypophosphatemia (XLH). Iron status influences C-terminal FGF23 (incorporating fragments plus intact FGF23)
Econs, Michael J. +3 more
core +1 more source
Genetic diseases of renal phosphate handling [PDF]
, 2006 UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1 ...
Wagner, Carsten A. +3 more
core +3 more sources
Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]
, 2016 Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira +17 more
core +1 more source
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. [PDF]
Proceedings of the National Academy of Sciences, 1976 A new dominant mutation in the laboratory mouse, hypophosphatemia (gene symbol Hyp), has been identified. The Hyp gene is located on the X-chromosome and maps at the distal end. Mutant mice are characterized by hypophosphatemia, bone changes resembling rickets, diminished bone ash, dwarfism, and high fractional excretion of phosphate anion (low net ...
Eicher, E M +3 more
openaire +2 more sources
The role of FGF23/Klotho in mineral metabolism and chronic kidney disease [PDF]
, 2013 Chronic kidney disease (CKD) is a global health burden of growing incidence and prevalence. As renal function declines disturbances in mineral metabolism, such as hyperphosphatemia and secondary hyperparathyroidism, inevitably develop. These metabolic
Olauson, Hannes
core +1 more source
Metabolism of Vitamin D3-3H in Vitamin D-Resistant Rickets and Familial Hypophosphatemia* [PDF]
Journal of Clinical Investigation, 1967 The fate of an intravenous dose of tritiated vitamin D(3) was studied in seven normal subjects, four children with vitamin D-resistant rickets, and four adults with a familial history of vitamin D-resistant rickets and persistent hypophosphatemia. An abnormal metabolism of vitamin D in vitamin D-resistant rickets was defined and characterized by a ...
L V, Avioli +3 more
openaire +2 more sources
Orphanet Journal of Rare Diseases, 2010 Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure.
Thakker Rajesh V, Devuyst Olivier
doaj +1 more source
The metabolic bone disease associated with the Hyp mutation is independent of osteoblastic HIF1α expression [PDF]
, 2017 Fibroblast growth factor-23 (FGF23) controls key responses to systemic phosphate increases through its phosphaturic actions on the kidney. In addition to stimulation by phosphate, FGF23 positively responds to iron deficiency anemia and hypoxia in rodent ...
Allen, Matt +5 more
core +3 more sources
Calcified Tissue International, 2023 AbstractRare genetic skeletal disorders (GSDs) remain the major problem in orthopedics and result in significant morbidity in patients, but the causes are highly diverse. Precise molecular diagnosis will benefit management and genetic counseling. This study aims to share the diagnostic experience on a three-generation Chinese family with co-occurrence ...
Jian Ma +10 more
openaire +2 more sources