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Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F. Nitschke Y, et al. Curr Osteoporos Rep. 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. Curr Osteoporos Rep. 2017. PMID: 28585220 Review.
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pse …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased ext …
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. ...There is thus a critical nee …
PURPOSE OF REVIEW: This review summarizes current understanding of generalized arterial calcification of infancy
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 by sever …
The prototype of such disorders is pseudoxanthoma elasticum (PXE), a late-onset, slowly progressing disorder with multisystem clinical manif …
Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.
Uitto J, Li Q, van de Wetering K, Váradi A, Terry SF. Uitto J, et al. J Invest Dermatol. 2017 Apr;137(4):790-795. doi: 10.1016/j.jid.2016.12.014. J Invest Dermatol. 2017. PMID: 28340679 Free PMC article. Review.
Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. ...
Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial
Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure.
Eller P, Hochegger K, Feuchtner GM, Zitt E, Tancevski I, Ritsch A, Kronenberg F, Rosenkranz AR, Patsch JR, Mayer G. Eller P, et al. Nephrol Dial Transplant. 2008 Jan;23(1):321-7. doi: 10.1093/ndt/gfm566. Epub 2007 Sep 10. Nephrol Dial Transplant. 2008. PMID: 17848394
Inactivating mutations of ENPP1 are associated with generalized arterial calcification of infancy. We hypothesized the ENPP1 K121Q variant to be associated with increased vascular calcification in patients with end-stage renal failure. ...Next, we matc …
Inactivating mutations of ENPP1 are associated with generalized arterial calcification of infancy. We hypothesiz …
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. About half of them die within the first 6 months despite optimal medical care. A subset of those who survive eventually develop hyp …
Patients with generalized arterial calcification of infancy (GACI) develop vascular calcifications early in life …
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Rutsch F, Böyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nürnberg P, Terkeltaub R; GACI Study Group. Rutsch F, et al. Circ Cardiovasc Genet. 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704. Circ Cardiovasc Genet. 2008. PMID: 20016754 Free PMC article.
BACKGROUND: Generalized arterial calcification of infancy has been reported to be frequently lethal, and the efficiency of any therapy, including bisphosphonates, is unknown. ...CONCLUSION: ENPP1 coding region mutations are associated with gener …
BACKGROUND: Generalized arterial calcification of infancy has been reported to be frequently lethal, and the eff …