arterial calcification, generalised, of infancy type 1

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arterial calcification, generalised, of infancy type 1

An autosomal recessive disorder (OMIM:208000) characterised by calcification of medium to large arteries, myointimal proliferation resulting in arterial stenosis, and focal periarticular calcification. Most die in early infancy from myocardial infarction, congestive heart failure or hypertension due to vascular occlusion.

Molecular pathology
Caused by loss of function mutations in ENPP1, which encodes a transmembrane glycoprotein that regulates soft tissue calcium and bone and joint cartilage mineralisation by generating pyrophosphate (PPi), a physiological inhibitor of hydroxyapatite crystal formation and a suppressor of chondrogenesis.
References in periodicals archive ?
Table 5 Effect Size W) of the Impact of Parent Training by Location on AIAC, IIAC, and Child Problem Behavior (CPB) Training Location Dyad AIAC d IIAC d CPB d Home A, C 5.
A Ministry of Justice spokesman said its response would be informed by the IIAC medical reports as well as other submissions.
An IIAC official said delayed or canceled flights from Saturday have caused a logjam on Sunday, and it won't be until late afternoon that the operations will be back to normal.
Mitchell Etess, president and chief executive of Mohegan Sun, stated: 'In April, we executed important agreements between Inspire and the Incheon International Airport Corp relating to the required surrounding infrastructure, the capital expenditures of which will be ultimately funded by the IIAC, our landlord on the project.
This year's IIAC features eight speakers from 8 countries who discussed about the growth of efficient and environmentally friendly future vehicles.
The last will be operated by IIAC Foreign Cargo Terminal Co, a consortium of the two Korean carriers with FedEx and UPS.
JFK Airport sought the IIAC's participation in the bidding, to which we submitted a proposal stating we would take part, as we determined it would be an opportunity to expand our capabilities," IIAC spokesman Shin Gi-dae said.
Indra and South Korea IIAC (Incheon International Airports Corporation) have signed contracts for the supply of the latest Navigation, Surveillance and Air Traffic Management (ATM) Systems to be operational at Incheon International Airport in Seoul.
IIAC will be themed "Green Car Development Facilitation", mirroring the concerns of all stakeholders and automotive players in Asia Pacific.
By 2017, IIAC is constructing a new terminal in order to cope with increases in traffic and to strengthen its competitiveness as a hub airport.
Jung Tae Song, Operations Manager of IIAC said: "We are implementing the kiosks as part of the Automated Information System which plays a key role in making the airport a fully intelligent terminal for all airport users and Travellers".