Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. (Q41773869)

9 October 2017

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. (English)

1 reference

arterial calcification of infancy

9 October 2017

1 reference

1 reference

7

Frank Rutsch

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9 October 2017

5

Giacomo Faldella

1 reference

9 October 2017

6

Luigi Corvaglia

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9 October 2017

1

Silvia Galletti

1 reference

9 October 2017

4

Giulia Aquilano

1 reference

9 October 2017

Yvonne Nitschke

2

1 reference

PMC publication ID

3509810

9 October 2017

Anna M Malavolti

series ordinal

3

1 reference

9 October 2017

25 June 2011

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Journal of Inherited Metabolic Disorders Reports

9 October 2017

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9 October 2017

1

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9 October 2017

23-27

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

9 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Idiopathic infantile arterial calcification: imaging evaluation and the usefulness of MR angiography

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Generalized arterial calcification of infancy: two siblings with prolonged survival

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Inorganic pyrophosphate generation and disposition in pathophysiology

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Image in cardiovascular medicine. Prenatal diagnosis of idiopathic infantile arterial calcification

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Idiopathic infantile arterial calcinosis: intermediate-term survival and cardiac sequelae

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

EHDP-induced rachitic syndrome in rats is not reversed by vitamin D metabolites

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Idiopathic arterial calcification of infancy: a clinicopathologic study

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Generalized arterial calcification of infancy: treatment with bisphosphonates

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Chondrogenesis mediated by PPi depletion promotes spontaneous aortic calcification in NPP1-/- mice

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

Idiopathic arterial calcification in childhood

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509810

18 August 2018

Identifiers

DOI

10.1007/8904_2011_11

1 reference

9 October 2017

1 reference

PMC publication ID

3509810

9 October 2017

PubMed publication ID

23430823

1 reference

PMC publication ID

3509810