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Generalized Arterial Calcification of Infancy.
Ziegler SG, Gahl WA, Ferreira CR. Ziegler SG, et al. 2014 Nov 13 [updated 2020 Dec 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Nov 13 [updated 2020 Dec 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25392903 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular finding …
CLINICAL CHARACTERISTICS: Generalized arterial calcification of infancy (GACI) is characterized by …
Generalized Arterial Calcification of Infancy (GACI): Optimizing Care with a Multidisciplinary Approach.
Kawai K, Sato Y, Kawakami R, Sakamoto A, Cornelissen A, Mori M, Ghosh S, Kutys R, Virmani R, Finn AV. Kawai K, et al. J Multidiscip Healthc. 2022 Jun 1;15:1261-1276. doi: 10.2147/JMDH.S251861. eCollection 2022. J Multidiscip Healthc. 2022. PMID: 35677616 Free PMC article. Review.
It is very unusual to see evidence of arterial calcification in infants and children, and when detected, genetic disorders of calcium metabolism should be suspected. Generalized arterial calcification of infancy (GACI) is a hereditary disease, w …
It is very unusual to see evidence of arterial calcification in infants and children, and when detected, genetic disorders of calcium metabo …
Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.
Boyce AM, Gafni RI, Ferreira CR. Boyce AM, et al. Curr Osteoporos Rep. 2020 Jun;18(3):232-241. doi: 10.1007/s11914-020-00577-4. Curr Osteoporos Rep. 2020. PMID: 32172442 Free PMC article. Review.
PURPOSE OF REVIEW: This review summarizes current understanding of generalized arterial calcification of infancy (GACI), emphasizing pathophysiology, clinical presentation, and approaches and controversies in management. ...
PURPOSE OF REVIEW: This review summarizes current understanding of generalized arterial calcification of infa …
Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy.
Ramirez-Suarez KI, Cohen SA, Barrera CA, Levine MA, Goldberg DJ, Otero HJ. Ramirez-Suarez KI, et al. Pediatr Radiol. 2022 Nov;52(12):2329-2341. doi: 10.1007/s00247-022-05364-0. Epub 2022 Apr 19. Pediatr Radiol. 2022. PMID: 35438330 Free PMC article. Review.
BACKGROUND: 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 …
BACKGROUND: Generalized arterial calcification of infancy (GACI), also known as idiopathic infantile arte …
Generalized Arterial Calcification of Infancy.
Donuru A, Kandula V, Oliver E, Saul D. Donuru A, et al. Radiol Cardiothorac Imaging. 2020 Aug 13;2(4):e190226. doi: 10.1148/ryct.2020190226. eCollection 2020 Aug. Radiol Cardiothorac Imaging. 2020. PMID: 33778601 Free PMC article.
Generalized arterial calcification of infancy (GACI) is a rare genetic disease that affects the circulatory system and the large- and medium-sized arteries throughout the body. GACI usually occurs during fetal development. Babies with GACI are d …
Generalized arterial calcification of infancy (GACI) is a rare genetic disease that affects the circulato …
Prenatal diagnosis of generalized arterial calcification of infancy in the second trimester.
Pu L, Dai X, Liu H, Li L, Zhao F, Chen J. Pu L, et al. Prenat Diagn. 2022 Nov;42(12):1538-1544. doi: 10.1002/pd.6245. Epub 2022 Oct 5. Prenat Diagn. 2022. PMID: 36184779
OBJECTIVES: Generalized arterial calcification of infancy (GACI) is a rare autosomal recessive disorder characterized by subintimal fibrous proliferation and deposition of calcium salts in the internal elastic lamina, leading to extensive arteri …
OBJECTIVES: Generalized arterial calcification of infancy (GACI) is a rare autosomal recessive disorder c …
Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).
Theng EH, Brewer CC, Oheim R, Zalewski CK, King KA, Delsmann MM, Rolvien T, Gafni RI, Braddock DT, Jeffrey Kim H, Ferreira CR. Theng EH, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):273. doi: 10.1186/s13023-022-02410-w. Orphanet J Rare Dis. 2022. PMID: 35854274 Free PMC article.
BACKGROUND AND IMPORTANCE: Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infancy. …
BACKGROUND AND IMPORTANCE: Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial …
Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).
Bulfamante GP, Carpenito L, Bragantini E, Graziani S, Bellizzi M, Bagowski CP, Shoukier M, Rivieri F, Soffiati M, Barbareschi M. Bulfamante GP, et al. Diagnostics (Basel). 2021 Jun 4;11(6):1034. doi: 10.3390/diagnostics11061034. Diagnostics (Basel). 2021. PMID: 34199854 Free PMC article.
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. ...
Generalized Arterial Calcification of Infancy (GACI) is a rare disease inherited in a recessive manner, w …
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA. Ferreira CR, et al. Genet Med. 2021 Feb;23(2):396-407. doi: 10.1038/s41436-020-00983-0. Epub 2020 Oct 2. Genet Med. 2021. PMID: 33005041 Free PMC article.
PURPOSE: Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. ...
PURPOSE: Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications t …
Generalized arterial calcification of infancy in a neonate with acute kidney injury: A rare case report.
Hailu SS, Derbew HM, Hailemeriam T. Hailu SS, et al. Radiol Case Rep. 2023 Jul 22;18(10):3376-3379. doi: 10.1016/j.radcr.2023.07.019. eCollection 2023 Oct. Radiol Case Rep. 2023. PMID: 37502478 Free PMC article.
Generalized arterial calcification of infancy (GACI) is a rare condition characterized by diffuse arterial calcification within the internal elastic lamina associated with intimal proliferation leading to stenosis of great and medium-sized vesse …
Generalized arterial calcification of infancy (GACI) is a rare condition characterized by diffuse arteria …
152 results