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Quoted phrase not found in phrase index: "Arterial calcification, generalized, of infancy, 1"
Page 1
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. ...Knowledge gaps in nat …
PURPOSE OF REVIEW: This review summarizes current understanding of generalized arterial calcification of infancy …
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 can le …
BACKGROUND: Generalized arterial calcification of infancy (GACI), also known as idiopathic infantile arterial ca …
ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy.
Khan T, Sinkevicius KW, Vong S, Avakian A, Leavitt MC, Malanson H, Marozsan A, Askew KL. Khan T, et al. Dis Model Mech. 2018 Oct 8;11(10):dmm035691. doi: 10.1242/dmm.035691. Dis Model Mech. 2018. PMID: 30158213 Free PMC article.
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 extracellul …
Generalized arterial calcification of infancy (GACI) is a rare, life-threatening disorder caused by loss-of-func …
Improving the Pharmacodynamics and In Vivo Activity of ENPP1-Fc Through Protein and Glycosylation Engineering.
Stabach PR, Zimmerman K, Adame A, Kavanagh D, Saeui CT, Agatemor C, Gray S, Cao W, De La Cruz EM, Yarema KJ, Braddock DT. Stabach PR, et al. Clin Transl Sci. 2021 Jan;14(1):362-372. doi: 10.1111/cts.12887. Epub 2020 Oct 20. Clin Transl Sci. 2021. PMID: 33064927 Free PMC article.
Enzyme replacement with ectonucleotide pyrophosphatase phospodiesterase-1 (ENPP1) eliminates mortality in a murine model of the lethal calcification disorder generalized arterial calcification of infancy. ...First, we added new N-glycans to ENPP …
Enzyme replacement with ectonucleotide pyrophosphatase phospodiesterase-1 (ENPP1) eliminates mortality in a murine model of the letha …
Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.
Li Q, van de Wetering K, Uitto J. Li Q, et al. Am J Pathol. 2019 Feb;189(2):216-225. doi: 10.1016/j.ajpath.2018.09.014. Epub 2018 Nov 7. Am J Pathol. 2019. PMID: 30414410 Free PMC article. Review.
The prototype of such disorders is pseudoxanthoma elasticum (PXE), a late-onset, slowly progressing disorder with multisystem clinical manifestations. Other conditions include generalized arterial calcification of infancy (GACI), characterized b …
The prototype of such disorders is pseudoxanthoma elasticum (PXE), a late-onset, slowly progressing disorder with multisystem clinical …
Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.
Brunod I, Tosello B, Hassid S, Gire C, Thomachot L, Panuel M. Brunod I, et al. BMC Pediatr. 2018 Jul 5;18(1):217. doi: 10.1186/s12887-018-1198-4. BMC Pediatr. 2018. PMID: 29976176 Free PMC article.
BACKGROUND: Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene. Here we present a case report of …
BACKGROUND: Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder …
Idiopathic arterial calcification of infancy.
Van Reempts PJ, Boven KJ, Spitaels SE, Roodhooft AM, Vercruyssen EL, Van Acker KJ. Van Reempts PJ, et al. Calcif Tissue Int. 1991 Jan;48(1):1-6. doi: 10.1007/BF02555789. Calcif Tissue Int. 1991. PMID: 2007222
Most findings in these patients are compatible with idiopathic arterial calcification of infancy (IACI). Investigation of calcium and phosphorus metabolism revealed spontaneously receding hypercalciuria, increased intraerythrocytic calcium levels, and …
Most findings in these patients are compatible with idiopathic arterial calcification of infancy (IACI). Investi …
Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults.
Khursigara G, Huertas P, Wenkert D, O'Brien K, Sabbagh Y. Khursigara G, et al. Bone. 2023 Jun;171:116750. doi: 10.1016/j.bone.2023.116750. Epub 2023 Mar 30. Bone. 2023. PMID: 37003563 Free article.
This study aims to determine the impact of time of day, meals, or exercise on plasma PP(i) homeostasis using a highly sensitive PPi assay. METHODS: In this single-center trial, a clinical laboratory improvement amendment (CLIA) validated modified sulfurylase-based a …
This study aims to determine the impact of time of day, meals, or exercise on plasma PP(i) homeostasis using a highly sensitive PPi assay. M …
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
Ferreira CR, Ziegler SG, Gupta A, Groden C, Hsu KS, Gahl WA. Ferreira CR, et al. Am J Med Genet A. 2016 May;170A(5):1308-11. doi: 10.1002/ajmg.a.37574. Epub 2016 Feb 9. Am J Med Genet A. 2016. PMID: 26857895 Free PMC article.
Patients with generalized arterial calcification of infancy (GACI) develop vascular calcifications early in life. ...
Patients with generalized arterial calcification of infancy (GACI) develop vascular calcifications early in life …
Two newborn babies with generalized arterial calcification of infancy, two new mutations.
Yapıcıoğlu-Yıldızdaş H, Özbarlas N, Erdem S, Yılmaz MB, Özlü F, Büyükkurt S, Soyupak S, Güllü U, Karaer K. Yapıcıoğlu-Yıldızdaş H, et al. Turk J Pediatr. 2016;58(4):419-423. doi: 10.24953/turkjped.2016.04.013. Turk J Pediatr. 2016. PMID: 28276217 Free article.
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 mesenteri …
Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially leth …
21 results