Generalized arterial calcification of infancy is a group of recessive disorders which often is associated with pseudoxanthoma elasticum.
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Rutsch F et al. (2008) Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. |
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HUNT AC et al. (1957) Generalized arterial calcification of infancy. |
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Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. |
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Le Boulanger G et al. (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. |
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Okawa A et al. (1998) Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. |
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Dlamini N et al. (2009) Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. |
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Rutsch F et al. (2001) PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. |
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Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. |
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OMIM.ORG article Omim 208000 |
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Orphanet article Orphanet ID 51608 |
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Wikipedia article Wikipedia EN (Generalized_arterial_calcification_of_infancy) |