Okulu, EmelArsan, SaadetAtasay, BegümErdeve, ÖmerEminoğlu, Fatma Tuba2020-03-252020-03-252017-12-29Okulu Emel, Tunç Gaffari, Eminoglu Fatma Tuba, Erdeve Ömer, Atasay Fatma Begüm, Arsan Saadet. Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism. Balkan J Med Genet 2017; 20(2): 95-98. doi: 10.1515/bjmg-2017-003110.1515/bjmg-2017-0031http://hdl.handle.net/20.500.12575/70759Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by CTSA gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis result in the loss of function of protective protein. Galactosialidosis is an autosomal recessive inherited disease and has been divided into three subtypes based on age of onset and the severity of clinical manifestations. We report an early infantile form of galactosialidosis in a newborn with a novel mutation in CTSA gene.enCC0 1.0 UniversalGalactosialidosisNewbornArticle2029598