Identification of a homozygous deletion of the NEU1 gene in a patient with type II sialidosis presenting isolated fetal ascites and central nervous system hypoplasia


Hippokratia 2019, 23(4): 169-171

Mitsiakos G, Gialamprinou D, Chouchou P, Chatziioannidis I, Karagianni P
2nd Neonatal Department and Neonatal Intensive Care Unit (NICU), Aristotle University, Papageorgiou General Hospital, Thessaloniki, Greece