FAQ

Arterial calcification of infancy

Known as: GACI, IIAC, Occlusive infantile arteriopathy 
An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1970-2018
051019702018

Related topics

Related topics

6 relations
Autosomal recessive inheritanceCoronary artery calcificationHeart failureHypertensive disease
(More)

Broader (1)

Vascular calcification

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Arterial calcification of infancy
Hypertensive disease
Myocardial Infarction
Heart failure
Autosomal recessive inheritance
Vascular calcification

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy.
Generalized arterial calcification (AC) of infancy (GACI) is an autosomal recessive disorder that features hydroxyapatite… (More)
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2012
2012
Molecular diagnosis of generalized arterial calcification of infancy (GACI)
Generalized arterial calcification of infancy (GACI) is a life-threatening disorder in young infants. Cardiovascular symptoms are… (More)
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2012
2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or… (More)
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2012
2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin
Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases… (More)
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2010
2010
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease affecting tissues rich in elastic fibers such as the skin… (More)
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2009
2009
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.
Generalized arterial calcification of infancy (GACI) (OMIM no. 208000) is characterized by calcification of the major arteries… (More)
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2005
2005
Generalized arterial calcification of infancy: two siblings with prolonged survival
In generalized arterial calcification of infancy (OMIM no. 208000), calcification of the media and proliferation of the intima… (More)
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Highly Cited
2003
Highly Cited
2003
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina… (More)
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Highly Cited
2001
Highly Cited
2001
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.
Inogranic pyrophosphate (PPi) inhibits hydroxyapatite deposition, and mice deficient in the PPi-generating nucleoside… (More)
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1978
1978
Idiopathic arterial calcification of infancy - a case report
Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of large… (More)
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