Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) - Ferreira, Carlos R.; Hackbarth, Mary E.; Ziegler, Shira G.; Pan, Kristen S.; Roberts, Mary S.; Rosing, Douglas R.; Whelpley, Margaret S.; Bryant, Joy C.; Macnamara, Ellen F.; Wang, Sisi; Müller, Kerstin; Hartley, Iris R.; et al. (Genetics in medicine, 2021)
Keywords: Adenosine; Adolescent; Adult; Age; Biomedical and Life Sciences; Biomedicine; Calcification; Clinical trials; Endocrinology; Enzymes; Female; Fibroblast Growth Factor-23; Genetics; Genomes; Genomics; Hearing loss; Hospitals; Human Genetics; Humans; Immunoassay; Laboratories; Laboratory Medicine; Medicine; Mutation; Pediatrics; Phosphoric Diester Hydrolases - genetics; Pregnancy; Prospective Studies; Pyrophosphatases - genetics; Research centers; Rickets; Survivors; Vascular Calcification; ENPP1 deficiency; generalized arterial calcification of infancy; ABCC6 deficiency; pseudoxanthoma elasticum; autosomal recessive hypophosphatemic rickets type 2