Results 41 to 50 of about 173,392,339 (131)

Unique, Early Prenatal Presentation of Generalized Arterial Calcification of Infancy. [PDF]

CASE (Phila)
Zhang SR, Van Galder H, Joynt M, Thorsson T.   +3 more
europepmc   +3 more sources

P299: Evidence for a pathogenic variant in a patient with generalized arterial calcification of infancy

Genetics in Medicine Open, 2023
Jennifer Black, Robert Lebel
doaj   +2 more sources

Molecular diagnosis of generalized arterial calcification of infancy (GACI). [PDF]

J Cardiovasc Dis Res, 2012
Generalized arterial calcification of infancy (GACI) is a life-threatening disorder in young infants. Cardiovascular symptoms are usually apparent within the first month of life. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries.
Kalal IG, Seetha D, Panda A, Nitschke Y, Rutsch F.   +4 more
europepmc   +4 more sources

Case Report: A Novel Genetic Mutation Causes Idiopathic Infantile Arterial Calcification in Preterm Infants

Frontiers in Genetics, 2021
Idiopathic infantile arterial calcification (IIAC), also known as generalized arterial calcification of infancy (GACI), is a heritable ectopic mineralization disorder that results in diffuse arterial calcifications and or stenosis, which are attributed ...
Liu Yunfeng, Han Tongyan, Wang Jing, Tong Xiaomei   +3 more
doaj   +1 more source

Generalized Arterial Calcification of Infancy Mimicking Coarctation of Aorta in a Neonate. [PDF]

Radiol Cardiothorac Imaging
Generalized arterial calcification of infancy (GACI) is a rare genetic condition with varied clinical presentation. Consequently, diagnosis is frequently delayed or missed. GACI has a poor prognosis, with more than half of patients dying before the age of 6 months.
Varghese NA, Gopal BR, Maheswaran A, Raju V, Vijayaraghavan A.   +4 more
europepmc   +3 more sources

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

PLoS Genetics, 2022
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent
Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li   +11 more
doaj   +1 more source

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. [PDF]

J Invest Dermatol, 2014
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by congenital calcification of large- and medium-sized arteries, associated with early myocardial infarction, heart failure, and stroke, and premature ...
Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA.   +10 more
europepmc   +2 more sources

ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. [PDF]

Nat Commun, 2015
AbstractDiseases of ectopic calcification of the vascular wall range from lethal orphan diseases such as generalized arterial calcification of infancy (GACI), to common diseases such as hardening of the arteries associated with aging and calciphylaxis of chronic kidney disease (CKD). GACI is a lethal orphan disease in which infants calcify the internal
Albright RA, Stabach P, Cao W, Kavanagh D, Mullen I, Braddock AA, Covo MS, Tehan M, Yang G, Cheng Z, Bouchard K, Yu ZX, Thorn S, Wang X, Folta-Stogniew EJ, Negrete A, Sinusas AJ, Shiloach J, Zubal G, Madri JA, De La Cruz EM, Braddock DT.   +21 more
europepmc   +4 more sources

Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy. [PDF]

Oncotarget, 2016
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by early onset of extensive mineralization of the cardiovascular system. The classical forms of GACI are caused by mutations in the ENPP1 gene, encoding
Siu SY, Dyment NA, Rowe DW, Sundberg JP, Uitto J, Li Q.   +5 more
europepmc   +3 more sources

Correction: Generalized arterial calcification of infancy: treatment with bisphosphonates [PDF]

Nature Reviews Endocrinology, 2009
Ramjan, K. et al. Generalized arterial calcification of infancy: treatment with bisphosphonates. Nat. Clin. Pract. Endocrinol. Metab. 5, 167–172 (2009). In the March 2009 issue of Nature Clinical Practice Endocrinology & Metabolism, the last sentence on page 2, column 2, paragraph 3 should have read “In view of her excellent clinical progress and ...
Kim Ramjan, Tony Roscioli, Frank Rutsch, David Sillence, Craig Munns   +4 more
openaire   +1 more source