Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy [PDF]
Disease Models & Mechanisms, 2013 SUMMARY Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder, is characterized by early mineralization of blood vessels, often diagnosed by prenatal ultrasound and usually resulting in demise during the first year of life.
Qiaoli Li +5 more
doaj +9 more sources
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin [PDF]
Frontiers in Genetics, 2012 Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause pseudoxanthoma elasticum (PXE).
Yvonne eNitschke, Frank eRutsch
doaj +8 more sources
Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy [PDF]
BMC PediatricsENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) plays a critical role by converting extracellular ATP to AMP, generating extracellular PPi, a potential inhibitor of calcification.
Hafiza Noor Ul Ayan +11 more
doaj +5 more sources
Two newborn babies with generalized arterial calcification of infancy, two new mutations [PDF]
The Turkish Journal of Pediatrics, 2016 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 ...
Hacer Yapıcıoğlu-Yıldızdaş +8 more
doaj +6 more sources
ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy [PDF]
Disease Models & Mechanisms, 2018 Generalized arterial calcification of infancy (GACI) is a rare, life-threatening disorder caused by loss-of-function mutations in the gene encoding ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1), which normally hydrolyzes extracellular ATP ...
Tayeba Khan +7 more
doaj +3 more sources
Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)) [PDF]
Diagnostics, 2021 Generalized Arterial Calcification of Infancy (GACI) is a rare disease inherited in a recessive manner, with severe and diffuse early onset of calcifications along the internal elastic lamina in large and medium size arteries.
Gaetano Pietro Bulfamante +9 more
doaj +4 more sources
Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy [PDF]
Bone Reports, 2015 Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was originally reported as a responsible gene for generalized arterial calcification in infancy (GACI).
Kentaro Miyai +5 more
doaj +3 more sources
ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP [PDF]
Experimental and Molecular Medicine, 2018 Arterial disease: promising protein replacement therapy in inherited disorder A protein replacement therapy may prove useful in tackling calcification and narrowing of the arteries in babies with a severe genetic disorder.
Yvonne Nitschke +5 more
doaj +5 more sources
Longitudinal Assessment of Vascular Calcification in Generalized Arterial Calcification of Infancy [PDF]
Pediatric Radiology, 2022 Generalized arterial calcification of infancy (GACI), also known as idiopathic infantile arterial calcification, is a very uncommon genetic disorder characterized by calcifications and stenoses of large- and medium-size arteries that can lead to end-organ damage.To describe changes in imaging findings in 10 children with GACI at a single institution ...
David J Goldberg +2 more
exaly +4 more sources
Prenatal Diagnosis and Management of Generalized Arterial Calcification of Infancy. [PDF]
O G OpenBackground: Generalized arterial calcification of infancy is a rare genetic disorder that was first reported in 1899. Since then, slightly more than 200 cases have been documented.
Kuppuswami N, Vijayaraghavan B.
europepmc +4 more sources