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Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
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, pseudoxant …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellu …
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 …
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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 …
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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 …
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