Open AccessGM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations
Author(s) -
Berrak Bilginer Gürbüz,
Fatma Derya Bulut,
Habibe Koç Uçar,
Esra Sarıgeçili,
Bilge Sarıkepe,
Özge Özalp Yüreğir
Publication year - 2021
Publication title -
çukurova medical journal (online)/çukurova medical journal
Language(s) - English
Resource type - Journals
eISSN - 2602-3032
pISSN - 2602-3040
DOI - 10.17826/cumj.945717
Subject(s) - sandhoff disease , tay sachs disease , hexosaminidase , hexa , medicine , pediatrics , gangliosidosis , adenine phosphoribosyltransferase , disease , biology , biochemistry , purine , enzyme