(Q37435839)

English

Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy

scientific article published on 10 June 2009

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scholarly article

1 reference

Europe PubMed Central

20 August 2017

Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy (English)

1 reference

Europe PubMed Central

20 August 2017

0 references

0 references

author name string

Nina S Ma

1

1 reference

Europe PubMed Central

20 August 2017

Peter J Malloy

2

1 reference

Europe PubMed Central

20 August 2017

Pisit Pitukcheewanont

3

1 reference

Europe PubMed Central

20 August 2017

Daina Dreimane

4

1 reference

Europe PubMed Central

20 August 2017

Mitchell E Geffner

5

1 reference

Europe PubMed Central

20 August 2017

David Feldman

6

1 reference

Europe PubMed Central

20 August 2017

publication date

10 June 2009

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

45

1 reference

Europe PubMed Central

20 August 2017

4

1 reference

Europe PubMed Central

20 August 2017

743-746

1 reference

Europe PubMed Central

20 August 2017

The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

23 August 2017

The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

23 August 2017

Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

23 August 2017

Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

23 August 2017

A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

23 August 2017

The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

26 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

26 June 2018

Hereditary resistance to 1,25-dihydroxyvitamin D: clinical and radiological improvement during high-dose oral calcium therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

26 June 2018

Absent intestinal response to calciferols in hereditary resistance to 1,25-dihydroxyvitamin D: documentation and effective therapy with high dose intravenous calcium infusions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

26 June 2018

Calcium therapy for calcitriol-resistant rickets.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782671

26 June 2018

A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling

1 reference

https://pubmed.ncbi.nlm.nih.gov/19523546

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D

1 reference

https://pubmed.ncbi.nlm.nih.gov/19523546

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oral calcium treatment in vitamin D-dependent rickets type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/19523546

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets

1 reference

https://pubmed.ncbi.nlm.nih.gov/19523546

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.BONE.2009.06.003

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

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