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About 123 results

ALLMedicine™ Arterial Calcification Of Infancy Center

Research & Reviews  48 results

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogene...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9089899
PLoS Genetics; Ralph D, Nitschke Y et. al.

Apr 29th, 2022 - 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 (PPi), a...

Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal...
https://doi.org/10.1002/jbmr.4550
Journal of Bone and Mineral Research : the Official Journ... Kato H, Ansh AJ et. al.

Mar 28th, 2022 - Homozygous ENPP1 mutations are associated with autosomal recessive hypophosphatemic rickets type 2 (ARHR2), severe ossification of the spinal ligaments, and generalized arterial calcification of infancy type 1. There are a limited number of report...

Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Ti...
https://doi.org/10.1016/j.ajpath.2022.01.012
The American Journal of Pathology; Ralph D, van de Wetering K et. al.

Feb 20th, 2022 - Pathologic soft tissue calcification can occur in both genetic and acquired clinical conditions, causing significant morbidity and mortality. Although the pathomechanisms of pathologic calcification are poorly understood, major progress has been m...

Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ENPP1 Deficiency
https://clinicaltrials.gov/ct2/show/NCT04686175

Jan 5th, 2022 - INZ-701 is an ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) enzyme replacement therapy in development for the treatment of ENPP1 Deficiency (including Generalized Arterial Calcification of Infancy Type 1 [GACI] and Autosomal Recessive...

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Clinicaltrials.gov  1 results

Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ENPP1 Deficiency
https://clinicaltrials.gov/ct2/show/NCT04686175

Jan 5th, 2022 - INZ-701 is an ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) enzyme replacement therapy in development for the treatment of ENPP1 Deficiency (including Generalized Arterial Calcification of Infancy Type 1 [GACI] and Autosomal Recessive...

see more →