Results 151 to 160 of about 4,812 (192)

Hypophosphatemic Rickets in Opsismodysplasia

Journal of Pediatric Endocrinology and Metabolism, 2007
Opsismodysplasia is a rare spondylo(epi)chondrodysplasia characteristized by delayed skeletal maturation and a constellation of dysplastic features. Although metaphyseal irregularities/cupping have been noted, neither renal phosphate wasting nor rickets have previously been reported.To evaluate hypophosphatemia and rickets in opsismodysplasia.Two girls
Martha Dechert, Zeger, Deanna, Adkins, Lynn A, Fordham, Kenneth E, White, Eckhard, Schoenau, Frank, Rauch, Karen J, Loechner   +6 more
openaire   +2 more sources

Iron Supplementation Associated With Loss of Phenotype in Autosomal Dominant Hypophosphatemic Rickets

Journal of Clinical Endocrinology and Metabolism, 2015
CONTEXT: Autosomal dominant hypophosphatemic rickets (ADHR) is the only hereditary disorder of renal phosphate wasting in which patients may regain the ability to conserve phosphate.
Klaus Kapelari, Wolfgang Hogler, Kapelari Klaus   +2 more
exaly   +2 more sources

FGF23 and Hypophosphatemic Rickets/Osteomalacia

Current Osteoporosis Reports, 2021
X-linked hypophosphatemia and tumor-induced osteomalacia are diseases characterized by hypophosphatemia with impaired proximal tubular phosphate reabsorption. Complete resection of responsible tumors is the first-line therapy for patients with tumor-induced osteomalacia.
Yuichi Takashi, Daiji Kawanami, Seiji Fukumoto   +2 more
openaire   +2 more sources

hypophosphatemic rickets

2023
Sequencing data of 9 Chinese families with hypophosphatemic rickets.
openaire   +1 more source

The enigma of hyperparathyroidism in hypophosphatemic rickets

Pediatric Nephrology, 2004
Familial hypophosphatemic rickets (XLH) is caused by inactivating mutations of the cell surface metalloproteinase PHEX. It is characterized by low-normal serum levels of 1,25-dihydroxyvitamin D(3)[1,25(OH)(2)D(3)], normocalcemia, and hypophosphatemia.
Claus Peter, Schmitt, Otto, Mehls
openaire   +2 more sources

Hereditary Hypophosphatemic Rickets with Hypercalciuria

New England Journal of Medicine, 1985
We studied a new hereditary syndrome of hypophosphatemic rickets and hypercalciuria in six affected members of one kindred. In all patients, the manifestations of disease began in early childhood. The characteristic features are rickets, short stature, increased renal phosphate clearance (the ratio between the maximal tubular reabsorption rate for ...
M, Tieder, D, Modai, R, Samuel, R, Arie, A, Halabe, I, Bab, D, Gabizon, U A, Liberman   +7 more
openaire   +2 more sources

Mineralized tissues in hypophosphatemic rickets

Pediatric Nephrology, 2019
Hypophosphatemic rickets is caused by renal phosphate wasting that is most commonly due to X-linked dominant mutations in PHEX. PHEX mutations cause hypophosphatemia indirectly, through the increased expression of fibroblast growth factor 23 (FGF23) by osteocytes.
Marie-Eve Robinson, Haitham AlQuorain, Monzur Murshed, Frank Rauch   +3 more
openaire   +2 more sources

Hypercalcemic Hyperparathyroidism in Hypophosphatemic Rickets

The Journal of Clinical Endocrinology & Metabolism, 1977
A 25-year-old white woman with sporadic hypophosphatemic rickets presented with a 7 year history of chronic mild hypercalcemia, osteitis fibrosa cystic and hypercalcemic nephropathy. Serum immunoreactive parathyroid hormone was elevated by greater than 100-fold and a 3.5 g parathyroid tumor was found at operation.
M, Kleerekoper, R, Coffey, T, Creco, S, Nichols, N, Cooke, W, Murphy, L V, Avioli   +6 more
openaire   +2 more sources

Hypophosphatemic Rickets

Southern Medical Journal, 1985
We studied the presentation and results of medical therapy in 25 children with sex-linked dominant hypophosphatemic rickets. The average age at diagnosis was 3.8 years. Reasons for the delay included misdiagnosis and failure to recognize the normal range of serum phosphorus levels in children. Early diagnosis and treatment (before age 1) was associated
W B, Greene, S G, Kahler
openaire   +2 more sources

X-linked hypophosphatemic rickets without ?rickets?

Skeletal Radiology, 1991
Wrist and knee radiographs from children with X-linked hypophosphatemic rickets were analyzed and compared with those from normal children and children with established rickets to assess whether radiographically apparent rickets is a consistent abnormality in X-linked hypophosphatemia. The absence or presence of rickets was correctly identified in 94.8%
M J, Econs, J R, Feussner, G P, Samsa, E L, Effman, J B, Vogler, S, Martinez, N E, Friedman, L D, Quarles, M K, Drezner   +8 more
openaire   +2 more sources