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 ?
The IIAC has successfully conducted five airport projects in Indonesia so far including business consulting for Juanda International Airport in 2015 and for International Jakarta Airport Terminal 3 in 2017.
The airport will further improve its services through various reform measures, including introducing duty-free shops at the arrival halls," Chung Il-young, president of the IIAC, said.
IIAC reportedly made the opening announcement on 11 December.
IIAC opened Terminal 2 on January 18, 2018, when Delta, its joint venture partner Korean Air, and Air France - KLM started operations.
Parent accurate (AIAC) and inaccurate (IIAC) use of antecedent and consequence strategies were recorded using a parent strategies checklist designed to document the occurrence ("+") or non-occurrence ("-") of discrete responses (see Table 2; this checklist was used by the trainer and parent to guide the intervention procedure).
The IFIC includes about 150 fund managers, distributors and industry service organizations, while the IIAC represents a similar number of regulated investment-dealer firms in the Canadian securities industry.
The IIAC selected airlines based on their on-time percentage, check-in waiting time, baggage handling, passenger survey for services, level of contribution to the airport's growth and passenger percentage.
The firm has collaborated successfully with Incheon International Airport Corporation (IIAC) by putting this strategy to good use for introducing new technologies at Incheon Airport in South Korea.
Taking the momentum, GAIKINDO regularly holds Indonesia International Automotive Conference (IIAC), and this year it is held for the ninth time.
Program of the Thailand Research Fund, Thailand; contract grant sponsor: Higher Education Research Promotion and National Research University Project of Thailand, Office of the Higher Education Commission; contract grant number: Project Code AM1076A: contract grant sponsor: Integrated Innovation Academic Center (IIAC), Chulalongkorn University Centenary Academic Development Project Chulalongkorn University, Bangkok, Thailand; contract grant number: Project Code CU-56-AM07.
Cette manifestation scientifique etait le resultat dune collaboration entre des institutions quebecoises (IPAC - Institut du patrimoine culturel de l'Univer-site Laval, et CELAT - Centre interuniversitaire d'etudes sur les lettres, les arts et les traditions) et francaises (LAHIC - Laboratoire d'Anthropologie et d'Histoire sur l'Institution de la Culture - Equipe du IIAC, CNRS - EHESS, Paris).