Tamara Wurst
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View article: Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes
Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes Open
Introduction Pseudoxanthoma elasticum (PXE) is an autosomal recessive ectopic calcification disorder clinically affecting the skin, eyes, and vascular system. Most cases of PXE are caused by inactivating pathogenic variants in the ABCC6 ge…
View article: ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification Open
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate …
View article: Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort Open