Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2011_11
Reference22 articles.
1. Atkin I, Ornoy A, Pita JC et al (1988) EHDP-induced rachitic syndrome in rats is not reversed by vitamin D metabolites. Anat Rec 220(1):22–30
2. Ciana G, Colonna F, Forleo V et al (1997) Idiopathic arterial calcification in infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: a case report. Pediatr Cardiol 18:67–71
3. Ciana G, Trappan A, Bembi B et al (2006) Generalized arterial calcification in infancy: two siblings with prolonged survival. Eur J Pediatr 165:258–263
4. Dlamini N, Splitt M, Durkan A et al (2009) Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. Am J Med Genet A 149A:456–460
5. Eronem M, Pohjavuori M, Heikkila P (2001) Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. Pediatr Cardiol 22:167–169
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