ALLMedicine™ Arterial Calcification Of Infancy Center
Research & Reviews 43 results
The Journal of Clinical Endocrinology and Metabolism; Bernhard E, Nitschke Y et. al.
Sep 10th, 2021 - Generalized arterial calcification of infancy, pseudoxanthoma elasticum, autosomal recessive hypophosphatemic rickets type 2, and hypophosphatasia are rare inherited disorders associated with altered plasma levels of inorganic pyrophosphate (PPi)....
Journal of Bone and Mineral Research : the Official Journ... Ferreira CR, Kintzinger K et. al.
Aug 7th, 2021 - Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the natural course...
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...
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...
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...