Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.

Autor: Kavčič, Alja1 alja.kavcic@kclj.si, Homan, Matjaž2, Živanović, Milanka3, Debeljak, Maruša4, Butenko, Tita5, Torkar, Ana Drole6, Tanšek, Mojca Žerjav6, Bertok, Sara6, Battelino, Tadej6, Groselj, Urh6
Zdroj: American Journal of Case Reports. 11/5/2022, Vol. 23, p1-4. 4p.
Databáze: Academic Search Ultimate