(Q35911423)

English

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

scientific article published on 4 April 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

1 reference

based on heuristic

inferred from title

arterial calcification of infancy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

David Jablonski

3

object named as

D Jablonski

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author name string

Q Li

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

W Schumacher

2

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

D Siegel

4

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

J Uitto

5

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

language of work or name

0 references

publication date

4 April 2012

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

British Journal of Dermatology

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

166

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

1107-1111

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Matrix Gla protein polymorphism, but not concentrations, is associated with radiographic hand osteoarthritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

Salpeter-induced dermal changes electron-microscopically indistinguishable from pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

11 July 2018

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

24 September 2018

Manifestations of pseudoxanthoma elasticum in childhood.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

24 September 2018

Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

24 September 2018

Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3336007

24 September 2018

Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22229486

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22229486

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoxanthoma elasticum

1 reference

https://pubmed.ncbi.nlm.nih.gov/22229486

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

L-tryptophan-induced eosinophilia-myalgia syndrome. I. Report of two cases with pseudoxanthoma-elasticum-like skin changes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22229486

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22229486

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22229486

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1365-2133.2012.10811.X

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

ResearchGate publication ID

0 references

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