NEU1 gene mutations – hippokratia.gr

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

Posted on July 20, 2020July 21, 2022 by admin

CASE REPORT

Hippokratia 2019, 23(4): 169-171

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