Article
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.
European journal of pediatrics - 1 Dec 2011
Edouard Thomas, Chabot Gilles, Miro Joaquim, Buhas Daniela Christina, Nitschke Yvonne, Lapierre Chantale, Rutsch Frank, Alos Nathalie
Abstract excerpt
UNLABELLED: Generalized arterial calcification of infancy (GACI, MIM#208000) is a rare autosomal recessive disorder characterized by extensive calcifications in the media of large- and medium-sized muscular arteries. Most affected children die in early infancy because of cardiac failure. GACI is linked to mutations in the ENPP1 gene, which encodes for an enzyme that generates inorganic pyrophosphate (PP(i)), a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.