vitamin D resistant rickets
Metabolism of Vitamin D3 3H in Vitamin D Resistant Rickets and Familial Hypophosphatemia
... 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 ...
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MULTIPLE GENETIC MECHANISMS IN VITAMIN D-RESISTANT RICKETS
... MULTIPLE GENETIC MECHANISMS IN VITAMIN D-RESISTANT RICKETS.. V ITAMIN D-resistant rickets of the “sim- pie” type is one of the most commonly.[r] ...
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The molecular basis of hereditary vitamin D resistant rickets
... in D resistan t rickets is an autosom al recessive disorder ch aracterised by severe rick ets, h ypocalcaem ia, secondary hyperparathyroidism and occasionally, the absence o f body ...
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Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness
... A comparison of the amino acid sequences in the loop that connects the two a-helices together among members of the thyroid/retinoid subgroup reveals that H305, which is found only in the VDR, aligns to a glycine which is ...
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"SPORADIC" HYPOPHOSPHATEMIA AND VITAMIN D-RESISTANT RICKETS
... the other parent. The present study clearly demonstrates that such a syndrome exists, because all of the close relatives of the pa- tient reported here are clinically and chemi- cally no[r] ...
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VITAMIN D RESISTANT RICKETS: THE EFFECT OF CALCIUM INFUSION ON PHOSPHATE REABSORPTION
... During and following the calcium infusion, phosphate reabsorption in the rachitic subjects often attained values within the range of the normal Tmp, even though the plasma concentration [r] ...
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MAGNESIUM STUDIES IN RELATION TO VITAMIN D-RESISTANT RICKETS
... The serum magnesium, calcium, and phosphorus levels as determined in the various metabolic periods. nesium to nitrogen ratio in IlOnmal skeletal[r] ...
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<p>PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country</p>
... hypophosphatemic rickets (XLHR, MIM 307,800), also known as vitamin D resistant rickets, familial hypophosphatemic rickets, or phosphate diabetes, is part of a larger group of ...
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CONGENITAL ABNORMALITIES OF AMINO ACID TRANSPORT IN RENAL TUBULES
... Infantile de Toni syndrome Milkman’s syndrome Vitamin D resistant rickets Buphthalmos and organic aciduria Pyruvic aciduria with steatorrhea Luder and Sheldon syndrome Tyrosinosis.. Alca[r] ...
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RICKETS AND ITS MANAGEMENT: A REVIEW
... of rickets is mainly lack of adequate calcium and impaired metabolism of vitamin ...This vitamin is very important to the body because it helps in the absorption of calcium and phosphate, the ...
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Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3
... We have identified and characterized two mutations in the hormone binding domain of the vitamin D receptor (VDR) in patients with hereditary vitamin D-resistant rickets. One ...
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Rickets
... three most common disorders of this type are: (1) primary renal hypophosphatemic rickets (familial vitamin D resistant rickets and osteomalacia); (2) renal tubular acidosis; and (3) Fanc[r] ...
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The molecular basis of hereditary 1,25 dihydroxyvitamin D3 resistant rickets in seven related families
... 1,25(OH)2D3, the active form of the hormone. The defect in target cells is heterogenous and commonly appears to be a mutation in the gene encoding the vitamin D receptor (VDR). We have studied cultured skin ...
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Pruning the ricket thicket
... 2 D, it is somewhat sur- prising that 1,25(OH) 2 D levels are low and hypercalcemia is absent in these ...2 D intoxica- tion and consequent hypercalcemia ...2 D levels to the point that ...
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Vitamin D, Cod-Liver Oil, Sunlight, and Rickets: A Historical Perspective
... of rickets has stood the test of times: “We affirm therefore, that this disease doth rarely invade children presently at birth, or before they are six months old; (yea, perhaps before the ninth moneth) but after ...
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Social dilemma and vitamin D deficiency: a cross-sectional study of nutritional rickets in children ages 6 months to 24 months
... of vitamin D in the ...of rickets. Distribution of rickets among children was decreased with increasing frequency of exposure to ...of vitamin D in the ...
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Incidental Rickets in the Emergency Department Setting
... Vitamin D deficiency rickets is a childhood osteomalacia, with impaired skeletal development and potentially skeletal ...of rickets are many but include widening, fraying, and cupping of the ...
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25 Hydroxycholecalciferol A COMPARATIVE STUDY IN DEFICIENCY RICKETS AND DIFFERENT TYPES OF RESISTANT RICKETS
... “pseudo-deficiency” rickets. In hypophosphatemic hereditary D-resistant rickets, 5 out of 13 patients' serum concentration of phosphorus reached at least 30 mg/liter, but a catch-up growth ...
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A study on the localisation of the PHEX gene, and mutation analysis of patients with X-linked hypophosphataemic rickets
... Wilson et a l (Wilson et al., 1991) looked at the effect o f growth hormone treatment. They noted that early observations o f growth hormone treatment increased renal phosphate reabsorption and calcitriol levels, which ...
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Defining Vitamin D Deficiency in Children: Beyond 25-OH Vitamin D Serum Concentrations
... of rickets (or any other overt signs of vitamin D deficiency) when levels were above this value in the People’s Republic of China, and to a lesser extent in the United States and ...
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