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 ?
Ce partenariat portera, dans un premier temps, sur la cerealiculture (ble et mais) dans la wilaya de Naama, avant de l'elargir a d'autres filieres notamment les agrumes, les fruits et legumes, les cultures de serre et l'elevage, a indique a la presse le directeur de la societe algerienne signataire, Salah Gaci. Il sera mis en œuvre au niveau d'un perimetre agricole d'une superficie de 500 ha dont 200 irrigues dans la wilaya de Naama.
Brugere JF, Borrel G, Gaci N, Tottey W, O'Toole PW, Malpuech-Brugere C.
This work was funded by PhD Scholarship supports from the French "Ministere de l'Enseignement Superieur et de la Recherche" to Nadia Gaci Simonetta Gribaldo was supported by the French Agence Nationale de la Recherche (ANR) through Grant ANR-10-BINF-01-01 "Ancestrome." Paul W O'Toole was supported by Science Foundation Ireland through a Principal Investigator award and by an FHRI award to the ELDERMET project by the Department of Agriculture, Fisheries and Marine of the Government of Ireland.
Guillaume Borrel, (1,2) Nadia Gaci, (1) Pierre Peyret, (1) Paul W.
Resulting from a merger of ACADEF and GACI, two professional French risk management associations, AMRAE unites under one organization some 400 individuals and companies in France to form what it hopes will be the authoritative voice for the entire risk management sector in the country.
ACADEF (Association des Charges de la Gestion des Risques et des Assurances des Entreprises Francaises) and GACI (Groupement des Assures du Commerce et de l'Industrie) were both created in 1972.
Gaci Mohamed Islam s'est presente pour regulariser sa situation.
[beaucoup plus grand que] Gaci Mohamed Islam, lui, est victime du terrorisme.
E-mail: lely.de.paz@mined.gob.sv, gaci @mined.gob.sv .
Azzedine Gaci, enseignant chercheur a l'Ecole superieure de chimie, physique, electronique et recteur de la mosquee Othmane de Villeurbanne (Lyon), a aborde [beaucoup moins que] les enjeux et defis du dialogue interreligieux en Occident [beaucoup plus grand que].