(Q36649264)

English

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications

scientific article published on 3 June 2008

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

0 references

vitamin deficiency

0 references

vitamin D deficiency

0 references

Harald Jüppner

8

object named as

H Jüppner

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

author name string

B Kremke

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

C Bergwitz

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

W Ahrens

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

S Schütt

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

M Schumacher

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

V Wagner

6

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

P-M Holterhus

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

O Hiort

9

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

publication date

3 June 2008

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Experimental and Clinical Endocrinology and Diabetes

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

117

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

49-56

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

Parathyroid hormone-dependent endocytosis of renal type IIc Na-Pi cotransporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

Rickets: not a disease of the past

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

The renal Na+/phosphate cotransporter NaPi-IIa is internalized via the receptor-mediated endocytic route in response to parathyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

Renouncing electroneutrality is not free of charge: switching on electrogenicity in a Na+-coupled phosphate cotransporter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

Fibroblast growth factor 7: an inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

Physiological regulation of renal sodium-dependent phosphate cotransporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

A high-resolution recombination map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

A common molecular basis for three inherited kidney stone diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

30 September 2017

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

28 June 2018

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

28 June 2018

Nephrocalcinosis in children and adolescents: sonographic evaluation during long-term treatment with 1,25-dihydroxycholecalciferol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777409

28 June 2018

Hyperoxaluria is not a cause of nephrocalcinosis in phosphate-treated patients with hereditary hypophosphatemic rickets

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523928

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hypophosphatemic rickets with hypercalciuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523928

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypophosphatemic rickets

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523928

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumor-induced osteomalacia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523928

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523928

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fanconi syndrome with hypouricemia in an adult: family study

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523928

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523928

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumor-induced osteomalacia--unveiling a new hormone

1 reference

https://pubmed.ncbi.nlm.nih.gov/18523928

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1055/S-2008-1076716

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

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