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Familial Hypophosphatemia

Archives of Internal Medicine, 1963
The etiology of rachitic bone disease associated with hypophosphatemia, which requires large doses of vitamin D for treatment, has been a subject of dispute. Albright, Butler, and Bloomberg 1 have attributed the syndrome to parathyroid hyperplasia secondary to calcium malabsorption, whereas Fanconi and Girardet 2 have proposed an intrinsic and primary ...
J E, WHITE   +3 more
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Familial Hypophosphatemia: Report of Two Cases

The Journal of Clinical Endocrinology & Metabolism, 1966
Two cases of hypophosphatemic vitamin D refractory rickets occurring in Negro children are reported. They presented with vitamin D refractory rickets, had hypophosphatemia, exhibited a familial pattern of inheritance, and responded to large doses of vitamin D. As in most reported cases, the male was more seriously affected.
M J, Fratkin, A R, Sharpe
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Ankylosing Spondylosis in Familial Hypophosphatemia.

Annals of Internal Medicine, 1970
Excerpt A large group of adults, including several family groups, with vitamin-D-resistant hypophosphatemic rickets have been studied.
Rahel K. Steinhauser   +3 more
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Low Breast Milk Phosphorus Concentration in Familial Hypophosphatemia

Journal of Pediatric Gastroenterology and Nutrition, 1989
SummaryWe report breast milk mineral concentrations in a mother with familial hypophosphatemia that was untreated due to poor compliance with medical advice. Milk phosphorus content was extremely low despite normal maternal serum phosphorus concentrations.
A J, Jonas, B, Dominguez
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Familial Hypophosphatemia: The Dilemma of Treatment

New England Journal of Medicine, 1973
Familial hypophosphatemia comprises a group of conditions often referred to as "hereditary vitamin-Dresistant rickets." Precise diagnosis in this sector of clinical medicine is of the greatest rele...
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[Familial hypophosphatemia].

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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X-ray microanalysis of teeth from healthy patients and patients with familial hypophosphatemia

Calcified Tissue International, 1990
Energy-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, 1967
The 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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Effects of 25-Hydroxycholecalciferol in Patients with Familial Hypophosphatemia and Vitamin-D-Resistant Rickets

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
openaire   +2 more sources

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