(Q43563720)

24 November 2017

title

Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type II. (English)

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24 November 2017

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I Yokota

1

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24 November 2017

E Takeda

2

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24 November 2017

M Ito

3

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24 November 2017

H Kobashi

4

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24 November 2017

T Saijo

5

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24 November 2017

Y Kuroda

6

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24 November 2017

publication date

1 January 1991

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Journal of Inherited Metabolic Disease

24 November 2017

published in

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24 November 2017

volume

14

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24 November 2017

issue

2

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24 November 2017

page(s)

231-240

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A specific competitive protein binding assay for serum 24,25-dihydroxyvitamin D in normal children and patients with nephrotic syndrome

24 November 2017

cites work

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12 December 2020

Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy

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12 December 2020

Stimulation of 24,25-dihydroxyvitamin D3 production by 1,25-dihydroxyvitamin D3

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12 December 2020

1,25-Dihydroxyvitamin D3 induces 25-hydroxyvitamin D3-24-hydroxylase in a cultured monkey kidney cell line (LLC-MK2) apparently deficient in the high affinity receptor for the hormone

1 reference

12 December 2020

1,25-Dihydroxyvitamin D3 receptors and functions in cultured pig kidney cells (LLC PK1). Regulation of 24,25-dihydroxyvitamin D3 production

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12 December 2020

Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia.

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12 December 2020

A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts

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12 December 2020

Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3

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12 December 2020

Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts

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12 December 2020

Regulation of 1,25-dihydroxyvitamin D3 receptors in cultured mouse bone cells. Correlation of receptor concentration with the rate of cell division

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12 December 2020

Vitamin D resistant rickets with alopecia: cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3

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12 December 2020

Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets

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12 December 2020

Demonstration of 1,25-dihydroxyvitamin D3 receptors in human skin biopsies

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12 December 2020

Vitamin D dependent rickets: decreased sensitivity to 1,25-dihydroxyvitamin D

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12 December 2020

1,25-Dihydroxyvitamin D resistance, rickets, and alopecia.

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12 December 2020

1 alpha-hydroxyvitamin D3 treatment of three patients with 1,25-dihydroxyvitamin D-receptor-defect rickets and alopecia

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12 December 2020

Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II.

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12 December 2020

Characterization of a specific, high affinity binding macromolecule for 1 alpha, 25-dihydroxyvitamin D3 in cultured chick kidney cells

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12 December 2020

25-Hydroxyvitamin D-24-hydroxylase in phytohemagglutinin-stimulated lymphocytes: intermediate bioresponse to 1,25-dihydroxyvitamin D3 of cells from parents of patients with vitamin D-dependent rickets type II

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12 December 2020

Rickets with alopecia: An inborn error of vitaminD metabolism

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12 December 2020

Biochemical characterization of 1,25(OH)2D3 receptors in chick embryonal duodenal cytosol

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12 December 2020

Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.

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12 December 2020

Competitive protein binding assay for plasma 25-hydroxycholecalciferol

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12 December 2020

Subcellular distribution of DNA-binding and non-DNA-binding 1,25-dihydroxyvitamin D receptors in chicken intestine

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12 December 2020

End-organ resistance to 1,25-dihydroxycholecalciferol

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12 December 2020

1,25-Dihydroxyvitamin D Resistance, Rickets, and Alopecia: Analysis of Receptors and Bioresponse in Cultured Fibroblasts from Patients and Parents*

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12 December 2020

Isolation and identification of 24,25-dihydroxycholecalciferol, a metabolite of vitamin D made in the kidney

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12 December 2020

Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects*

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12 December 2020

Identifiers

DOI

10.1007/BF01800596

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Dimensions Publication ID

24 November 2017

1050600340

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