Results 151 to 160 of about 187,796 (197)
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Wiener klinische Wochenschrift, 1990
The main features of X-linked dominant renal hypophosphatemic rickets are illustrated in this study of two patients who presented with rickets, deformities of the lower limbs, and small stature. Hypophosphatemia secondary to a reduction in renal tubular reabsorption of phosphate and a defect of vitamin D hydroxylation are the hallmarks of the disease ...
E, Ring, G, Zobel, M, Riccabona
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The main features of X-linked dominant renal hypophosphatemic rickets are illustrated in this study of two patients who presented with rickets, deformities of the lower limbs, and small stature. Hypophosphatemia secondary to a reduction in renal tubular reabsorption of phosphate and a defect of vitamin D hydroxylation are the hallmarks of the disease ...
E, Ring, G, Zobel, M, Riccabona
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New England Journal of Medicine, 1970
Abstract The conversion of vitamin D3 to 25-hydroxycholecalciferol (25-HCC) is quantitatively decreased in some patients with familial hypophosphatemia and vitamin-D-resistant rickets.
H S, Earp +4 more
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Abstract The conversion of vitamin D3 to 25-hydroxycholecalciferol (25-HCC) is quantitatively decreased in some patients with familial hypophosphatemia and vitamin-D-resistant rickets.
H S, Earp +4 more
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X-ray microanalysis of teeth from healthy patients and patients with familial hypophosphatemia
Calcified Tissue International, 1990Energy-dispersive X-ray microanalysis was used to determine calcium/phosphorous (Ca/P) ratios in undecalcified teeth, and the sulfur (S) content of dentin of decalcified teeth from normal patients and patients with familial hypophosphatemia, in an attempt to determine the effect of phosphorus deficiency.
T D, Daley +3 more
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Metabolism of tritiated vitamin D3 in familial vitamin D-resistant rickets with hypophosphatemia
The Journal of Pediatrics, 1967The metabolism of tritiated vitamin D 3 in two control subjects and two with familial vitamin D-resistant rickets was studied. Sixteen hours after a 0.25 mg. intravenous dose of H 3 vitamin D 3 was given, blood samples were taken, extracted, and chromatographed.
H F, DeLuca +3 more
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The Journal of Bone & Joint Surgery, 1964
The regulation of vitamin-D dosage in resistant rickets (familial or essential hypophosphatemia) is best accomplished by measuring the twenty-four-hour urinary calcium output against the curve of normal excretion. For such comparison the subject's weight and a fairly close estimate of calcium intake are also necessary.
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The regulation of vitamin-D dosage in resistant rickets (familial or essential hypophosphatemia) is best accomplished by measuring the twenty-four-hour urinary calcium output against the curve of normal excretion. For such comparison the subject's weight and a fairly close estimate of calcium intake are also necessary.
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X-linked hypophosphatemia osteomalacia : about 2 families
2012Les ostéomalacies secondaires à une fuite rénale du phosphate regroupent plusieurs entités dont le syndrome de Fanconi, l'ostéomalacie oncogénique, l'acidose tubulaire et l'hypophosphatémie familiale vitaminorésistante. Les formes héréditaires sont rares, nous rapportons le cas de 2 familles présentant une ostéomalacie hypophosphorémique vitamino ...
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Vnitrni lekarstvi, 2010
Hypercalcemia and hypophosphatemia are symptoms of two relatively rare hereditary diseases and are extraordinarily important from the standpoint of the differential diagnosis. Mutation in calcium sensing receptor gene (CaSR) clinically manifests as familial hypocalciuric hypercalcemia (FHH) or as the much more serious neonatal hyperparathyreosis ...
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Hypercalcemia and hypophosphatemia are symptoms of two relatively rare hereditary diseases and are extraordinarily important from the standpoint of the differential diagnosis. Mutation in calcium sensing receptor gene (CaSR) clinically manifests as familial hypocalciuric hypercalcemia (FHH) or as the much more serious neonatal hyperparathyreosis ...
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New England Journal of Medicine, 1962
W G, BLACKARD, R R, ROBINSON, J E, WHITE
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W G, BLACKARD, R R, ROBINSON, J E, WHITE
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