Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders
高度减退性溶酶体贮积症的遗传学见解和诊断挑战
期刊:Genes
影响因子:2.8
doi:10.3390/genes16080915
Urizar, Elena; McCarron, Eamon P; Gadepalli, Chaitanya; Bentley, Andrew; Woolfson, Peter; Lin, Siying; Iosifidis, Christos; Browning, Andrew C; Bassett, John; Senarathne, Udara D; Indika, Neluwa-Liyanage R; Church, Heather J; Cooper, James A; Menendez Lorenzo, Jorge; Farrugia, Maria Elena; Jones, Simon A; Black, Graeme C; Stepien, Karolina M