(Q41986289)

14 October 2017

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin (English)

1 reference

arterial calcification of infancy

14 October 2017

1 reference

Yvonne Nitschke

1

1 reference

PMC publication ID

3529400

14 October 2017

Frank Rutsch

series ordinal

2

1 reference

14 October 2017

24 December 2012

1 reference

14 October 2017

Frontiers in Genetics

1 reference

14 October 2017

3

1 reference

14 October 2017

302

1 reference

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

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Nucleotide pyrophosphatases/phosphodiesterases on the move

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Mutations in ABCC6 cause pseudoxanthoma elasticum

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Idiopathic arterial calcification of infancy: a clinicopathologic study

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Manifestations of pseudoxanthoma elasticum in childhood.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Generalized arterial calcification of infancy: treatment with bisphosphonates

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3529400

Contribution ofABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients

18 August 2018

1 reference

12 December 2020

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

1 reference

12 December 2020

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

1 reference

12 December 2020

Idiopathic arterial calcification in infancy

1 reference

12 December 2020

Identifiers

DOI

10.3389/FGENE.2012.00302

1 reference

14 October 2017

1 reference

PMC publication ID

3529400

14 October 2017

PubMed publication ID

23269929

1 reference

PMC publication ID

3529400