title: Two newborn babies with generalized arterial calcification of infancy, two new mutations.
abstract: Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries. Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life.
authors.affiliation: Division of Neonatology, Çukurova University, Faculty of Medicine, Adana, Turkey.
authors.forename: Hacer
authors.initials: H
authors.lastname: Yapıcıoğlu-Yıldızdaş
authors.affiliation: Pediatric Cardiology, Department of Pediatrics, Çukurova University, Faculty of Medicine, Adana, Turkey.
authors.forename: Nazan
authors.initials: N
authors.lastname: Özbarlas
authors.affiliation: Pediatric Cardiology, Department of Pediatrics, Çukurova University, Faculty of Medicine, Adana, Turkey.
authors.forename: Sevcan
authors.initials: S
authors.lastname: Erdem
authors.affiliation: Departments of Medical Biology, Çukurova University, Faculty of Medicine, Adana, Turkey.
authors.forename: Mehmet Bertan
authors.initials: MB
authors.lastname: Yılmaz
authors.affiliation: Division of Neonatology, Çukurova University, Faculty of Medicine, Adana, Turkey.
authors.forename: Ferda
authors.initials: F
authors.lastname: Özlü
authors.affiliation: Departments of Gynecology and Obstetrics, Çukurova University, Faculty of Medicine, Adana, Turkey.
authors.forename: Selim
authors.initials: S
authors.lastname: Büyükkurt
authors.affiliation: Departments of Radiology, Çukurova University, Faculty of Medicine, Adana, Turkey.
authors.forename: Süreyya
authors.initials: S
authors.lastname: Soyupak
authors.affiliation: Pediatric Cardiology, Department of Pediatrics, Çukurova University, Faculty of Medicine, Adana, Turkey.
authors.forename: Utku
authors.initials: U
authors.lastname: Güllü
authors.affiliation: Çukurova University, Faculty of Medicine, Adana; Intergen Laboratory, Ankara, Turkey.
authors.forename: Kadri
authors.initials: K
authors.lastname: Karaer
mesh_terms: D001158:Arteries / Q000473:pathology*; D004164:Diphosphonates / Q000627:therapeutic use*; D004452:Echocardiography; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011755:Pyrophosphatases / Q000235:genetics*; D061205:Vascular Calcification / Q000235:genetics*
chemical_list: D004164:Diphosphonates; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases
keywords: idiopathic generalized arterial calcification; newborn