Results 151 to 160 of about 11,040 (189)
Some of the next articles are maybe not open access.
The enigma of hyperparathyroidism in hypophosphatemic rickets
Pediatric Nephrology, 2004Familial 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
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
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
Hereditary Hypophosphatemic Rickets with Hypercalciuria
New England Journal of Medicine, 1985We 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 +7 more
openaire +2 more sources
X-linked hypophosphatemic rickets without ?rickets?
Skeletal Radiology, 1991Wrist 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 +8 more
openaire +2 more sources
Mineralized tissues in hypophosphatemic rickets
Pediatric Nephrology, 2019Hypophosphatemic 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 +3 more
openaire +2 more sources
Hypercalcemic Hyperparathyroidism in Hypophosphatemic Rickets
The Journal of Clinical Endocrinology & Metabolism, 1977A 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 +6 more
openaire +2 more sources
Przeglad lekarski, 2000
Familiar hypophosphatemic rickets (X-linked hypophosphataemia) occurs very rarely, nevertheless it makes a significant medical problem because of the fact that misdiagnosed or late diagnosed leads to physical development retardation and to severe deformities of extremities. In the case of severe deformities the surgical treatment is needed.
W, Kołłataj, E, Szewczyk
openaire +1 more source
Familiar hypophosphatemic rickets (X-linked hypophosphataemia) occurs very rarely, nevertheless it makes a significant medical problem because of the fact that misdiagnosed or late diagnosed leads to physical development retardation and to severe deformities of extremities. In the case of severe deformities the surgical treatment is needed.
W, Kołłataj, E, Szewczyk
openaire +1 more source
Hypophosphatemic rickets and short stature
Journal of Bone and Mineral ResearchVignette An 18-month-old male presented with gross motor delay and poor growth (weight z-score −2.21, length z-score −4.26). Radiographs showed metaphyseal irregularities suggesting metaphyseal dysplasia and sagittal craniosynostosis. Biochemical evaluation supported hypophosphatemic rickets [serum phosphorus 2.3 mg/dL (reference range ...
Kelli Davis +2 more
openaire +2 more sources
Reviews in Endocrine and Metabolic Disorders, 2001
L A, DiMeglio, M J, Econs
openaire +2 more sources
L A, DiMeglio, M J, Econs
openaire +2 more sources