Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature (Q34273172)

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English	Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature	scientific article

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

6 references

13 March 2019

24 March 2019

22 April 2019

28 September 2019

29 January 2021

6 February 2021

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature (English)

1 reference

Europe PubMed Central

1 August 2017

hyperphosphatemic familial tumoral calcinosis

0 references

4 references

13 March 2019

24 March 2019

22 April 2019

28 September 2019

5 references

13 March 2019

24 March 2019

22 April 2019

28 September 2019

29 January 2021

hyperphosphatemia

4 references

13 March 2019

24 March 2019

22 April 2019

28 September 2019

1 reference

28 September 2019

perinatal disease

1 reference

6 February 2021

Robert Bjerknes

4

object named as

Robert Bjerknes

1 reference

Europe PubMed Central

1 August 2017

Stefan Johansson

2

object named as

Stefan Johansson

1 reference

Europe PubMed Central

1 August 2017

author name string

Silje Rafaelsen

1

1 reference

Europe PubMed Central

1 August 2017

Helge Ræder

3

1 reference

Europe PubMed Central

1 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

24 September 2014

7 references

Europe PubMed Central

1 August 2017

13 March 2019

24 March 2019

22 April 2019

28 September 2019

29 January 2021

6 February 2021

7 references

Europe PubMed Central

1 August 2017

13 March 2019

24 March 2019

22 April 2019

28 September 2019

29 January 2021

6 February 2021

15

1 reference

Europe PubMed Central

1 August 2017

98

1 reference

Europe PubMed Central

1 August 2017

copyright license

Creative Commons Attribution

6 references

13 March 2019

24 March 2019

22 April 2019

28 September 2019

29 January 2021

6 February 2021

copyright status

0 references

on focus list of Wikimedia project

0 references

https://scigraph.springernature.com/pub.10.1186/s12863-014-0098-3

0 references

An ocular presentation of familial tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Familial tumoral calcinosis: a forty-year follow-up on one family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Tumoral calcinosis in infants: a report of three cases and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Association of conjunctival and corneal calcification with vascular calcification in dialysis patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

A case of familial tumoral calcinosis in a neonate and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Tumoral calcinosis: a case report and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Tumoral calcinosis revisited--common and uncommon features. Report of ten cases and review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Tumoral calcinosis with unusual dental radiographic findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Nomogram for derivation of renal threshold phosphate concentration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

6 July 2018

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

Calculation of renal tubular reabsorption of phosphate: the algorithm performs better than the nomogram.

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

A report of familial hyperphosphataemia in an Irish family.

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

Elevated fibroblast growth factor 23 exerts its effects on placenta and regulates vitamin D metabolism in pregnancy of Hyp mice.

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

Method-specific differences in plasma fibroblast growth factor 23 measurement using four commercial ELISAs

1 reference

https://api.crossref.org/works/10.1186%2FS12863-014-0098-3

21 January 2018

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

28 October 2018

Successful treatment of hyperphosphatemic tumoral calcinosis with long-term acetazolamide.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4181413

28 October 2018

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumoral calcinosis--a pathogenetic overview: a histological and ultrastructural study with a report of two new cases, one in infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conjunctival and corneal calcification and bone metabolism in hemodialysis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microcrystalline conjunctival calcification in renal failure. A useful clinical sign

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumoral calcinosis with hyperphosphatemia. A report of a family with incidence in four siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumoral calcinosis, diaphysitis, and hyperphosphatemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Band keratopathy and calcific lid lesions in tumoral calcinosis. Case reports

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumoral calcinosis in two infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imaging of tumoral calcinosis: new observations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dental lesions in tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperphosphataemic tumoral calcinosis in Bedouin Arabs--clinical and radiological features

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous regression of tumoral calcinosis in an infant: a case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angioid streaks and sicklecell disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous regression of multiple tumoral calcinosis in a child

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NovelGALNT3Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel GALNT3 mutations in familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aggressive tumoral calcinosis in an infant thoracotomy scar

1 reference

https://pubmed.ncbi.nlm.nih.gov/25249269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/S12863-014-0098-3

1 reference

Europe PubMed Central

1 August 2017

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0 references

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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