Papers & Publications
| Publications about GACI, ARHR2, ENPP1 Deficiency, and ABCC6 Deficiency. |
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| Improvements in hearing loss with bone-targeted enzyme replacement therapy are associated with corrected hypomineralization and osteocyte properties of auditory ossicles in Enpp1-deficient mice View / Download Publication Date: JBMR September 2025 |
| Phenotypic characterization of ENPP1 Deficiency: Generalized Arterial Calcification of Infancy and Autosomal Recessive Hypophosphatemic Rickets Type 2 View / Download Publication Date: JBMR Plus January 2025 |
| ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency. View / Download Publication Date: October 2023 |
| Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective. View / Download Publication Date: July 2022 |
| Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI). View / Download Publication Date: July 2022 |
| ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification. View / Download 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. View / Download Publication Date: December 2021 |
| Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies. View / Download Publication Date: November 2021 |
| Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). View / Download Publication Date: February 2021 |
| Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management. View / Download Publication Date: March 2020 |
| Hypercementosis Associated with ENPP1 Mutations and GACI. View / Download Publication Date: December 2017 |
| Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. View / Download Publication Date: September 2013 |
| Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. View / Download Publication Date: 2008 |
