Papers & Publications

Publications about GACI, ARHR2, ENPP1 Deficiency, and ABCC6 Deficiency.
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
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Publication Date: August 2021

Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective.
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Publication Date: July 2022

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
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Publication Date: February 2021

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.
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Publication Date: October 2023

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).
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Publication Date: July 2022

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
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Publication Date: April 2022

Musculoskeletal Comorbidities and Quality of Life in ENPP1-Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models.
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Publication Date: December 2021

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.
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Publication Date: March 2020

Hypercementosis Associated with ENPP1 Mutations and GACI.
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Publication Date: December 2017

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.
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Publication Date: September 2013

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
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Publication Date: 2008