Results 111 to 120 of about 173,392,339 (131)
Some of the next articles are maybe not open access.
World Journal for Pediatric and Congenital Heart Surgery, 2022
We report a case of massive ascending aortic dilatation in a patient with generalized arterial calcification of infancy (GACI). He was found to carry compound heterozygous mutations in ABCC6 gene, previously associated with pseudoxanthoma elasticum, although recently linked to GACI. Our case confirms previous reports of a genotypic overlap between both
Laia, Brunet-Garcia +3 more
openaire +2 more sources
We report a case of massive ascending aortic dilatation in a patient with generalized arterial calcification of infancy (GACI). He was found to carry compound heterozygous mutations in ABCC6 gene, previously associated with pseudoxanthoma elasticum, although recently linked to GACI. Our case confirms previous reports of a genotypic overlap between both
Laia, Brunet-Garcia +3 more
openaire +2 more sources
Coronary Pathology of Inherited Generalized Arterial Calcification of Infancy: A Case Report
Cardiovascular Pathology, 2018Generalized arterial calcification of infancy (GACI), or idiopathic infantile arterial calcification, is a rare autosomal-recessive disease recognized aAs an inherited disorder characterized by severe pathologic calcification of large- and medium-sized arteries accompanied by smooth muscle cell (SMC) hyperplasia leading to vascular obstruction [1]. The
Duccio Federici +2 more
exaly +3 more sources
Forensic Science International, 2015
Generalized arterial calcification in infancy is a rare genetic disorder characterized by abnormal calcification of large and medium sized arteries and marked myointimal proliferation resulting in arterial stenosis. The condition is often fatal secondary to complications of cardiac ischemia, hypertension and cardiac failure.
Ferdia Bolster
exaly +3 more sources
Generalized arterial calcification in infancy is a rare genetic disorder characterized by abnormal calcification of large and medium sized arteries and marked myointimal proliferation resulting in arterial stenosis. The condition is often fatal secondary to complications of cardiac ischemia, hypertension and cardiac failure.
Ferdia Bolster
exaly +3 more sources
Generalized Arterial Calcification of Infancy (GACI)
Archives de PédiatrieGeneralized arterial calcification of infancy (GACI) is an ultra-rare autosomal recessive disorder associated with pathogenic variants in ENPP1, the major gene involved in this condition, and in ABCC6, which is involved in a small fraction of affected individuals.
Geneviève, Baujat, Alix, Besançon
openaire +2 more sources
Perfusion
Introduction Generalized arterial calcification of infancy (GACI) is a rare, difficult to recognize, autosomal recessive disorder with high neonatal mortality due to vascular calcification and cardiopulmonary collapse.
Sarah D. King +4 more
openaire +2 more sources
Introduction Generalized arterial calcification of infancy (GACI) is a rare, difficult to recognize, autosomal recessive disorder with high neonatal mortality due to vascular calcification and cardiopulmonary collapse.
Sarah D. King +4 more
openaire +2 more sources
Generalized Arterial Calcification of Infancy
The Journal of Pediatrics, 2013openaire +2 more sources