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ba0006p181 | (1) | ICCBH2017

Generalized arterial calcinosis of infancy: a case of a new mutation with central nervous system involvement and good response to bisphosphonates

Doulgeraki Artemis , Nika A. , Vakaki M. , Grigoriadou G. , Servos G. , Athanasopoulou H. , Katsieri K. , Kapetanakis I.

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

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Generalized arterial calcinosis of infancy: a case of a new mutation with central nervous system involvement and good response to bisphosphonates

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