ALLMedicine™ Arterial Calcification Of Infancy Center
Research & Reviews 42 results
https://doi.org/10.1016/j.bone.2021.116111
Bone Höppner J, Kornak U et. al.
Jul 13th, 2021 - Awareness for hypophosphatemic rickets has increased in the last years, based on the availability of specific medical treatments. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hypophosphatemic rickets, which is know...
https://doi.org/10.1016/j.ajo.2021.04.010
Genetics in Medicine : Official Journal of the American C... Stern R, Levi DS et. al.
Jun 16th, 2021 - To compare spectral-domain optical coherence tomography (SDOCT) measured circumpapillary retinal nerve fiber layer (cpRNFL) among 4 glaucomatous optic disc phenotypes in early glaucoma. Clinical cohort study METHODS: In this study, 218 early glauc...
https://doi.org/10.1002/jbmr.4315
Journal of Bone and Mineral Research : the Official Journ... Cheng Z, O'Brien K et. al.
Apr 27th, 2021 - Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is the major enzyme that cleaves extracellular adenosine triphosphate (ATP) to generate pyrophosphate (PPi), an inorganic metabolite with potent anticalcification activity. Loss-of-functio...
https://www.ncbi.nlm.nih.gov/books/n/gene/gaci/
Dec 30th, 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,...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877847
Clinical and Translational Science; Stabach PR, Zimmerman K et. al.
Oct 17th, 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...
