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About 206 results

ALLMedicine™ Arterial Calcification Of Infancy Center

Research & Reviews  103 results

Generalized Arterial Calcification of Infancy - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/gaci/

Dec 29th, 2020 - Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure,...

Improving the Pharmacodynamics and In Vivo Activity of ENPP1-Fc Through Protein and Gly...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877847
Clinical and Translational Science; Stabach PR, Zimmerman K et. al.

Oct 16th, 2020 - Enzyme replacement with ectonucleotide pyrophosphatase phospodiesterase-1 (ENPP1) eliminates mortality in a murine model of the lethal calcification disorder generalized arterial calcification of infancy. We used protein engineering, glycan optimi...

Prospective phenotyping of long-term survivors of generalized arterial calcification of...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7867608
Genetics in Medicine : Official Journal of the American C... Ferreira CR, Hackbarth ME et. al.

Oct 2nd, 2020 - Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI cases result from deficiency of ABCC6, a me...

Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744330
Bone Maulding ND, Kavanagh D et. al.

Sep 27th, 2020 - Ectonucleotide phosphatase/phosphodiesterase 1 (ENPP1) deficiency results in either lethal arterial calcifications ('Generalized Arterial Calcification of Infancy' - GACI), phosphate wasting rickets ('Autosomal Recessive Hypophosphatemic Rickets t...

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approac...
https://doi.org/10.1007/s11914-020-00577-4
Current Osteoporosis Reports; Boyce AM, Gafni RI et. al.

Mar 16th, 2020 - This review summarizes current understanding of generalized arterial calcification of infancy (GACI), emphasizing pathophysiology, clinical presentation, and approaches and controversies in management. Identification of causative ENPP1 mutations r...

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Clinicaltrials.gov  103 results

Generalized Arterial Calcification of Infancy - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/gaci/

Dec 29th, 2020 - Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure,...

Improving the Pharmacodynamics and In Vivo Activity of ENPP1-Fc Through Protein and Gly...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877847
Clinical and Translational Science; Stabach PR, Zimmerman K et. al.

Oct 16th, 2020 - Enzyme replacement with ectonucleotide pyrophosphatase phospodiesterase-1 (ENPP1) eliminates mortality in a murine model of the lethal calcification disorder generalized arterial calcification of infancy. We used protein engineering, glycan optimi...

Prospective phenotyping of long-term survivors of generalized arterial calcification of...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7867608
Genetics in Medicine : Official Journal of the American C... Ferreira CR, Hackbarth ME et. al.

Oct 2nd, 2020 - Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI cases result from deficiency of ABCC6, a me...

Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744330
Bone Maulding ND, Kavanagh D et. al.

Sep 27th, 2020 - Ectonucleotide phosphatase/phosphodiesterase 1 (ENPP1) deficiency results in either lethal arterial calcifications ('Generalized Arterial Calcification of Infancy' - GACI), phosphate wasting rickets ('Autosomal Recessive Hypophosphatemic Rickets t...

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approac...
https://doi.org/10.1007/s11914-020-00577-4
Current Osteoporosis Reports; Boyce AM, Gafni RI et. al.

Mar 16th, 2020 - This review summarizes current understanding of generalized arterial calcification of infancy (GACI), emphasizing pathophysiology, clinical presentation, and approaches and controversies in management. Identification of causative ENPP1 mutations r...

see more →