Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings

Autor: Kalay, Irem, Aykut, Hüseyin, Caliskan, Zuhal, Yigit, Gökhan, Wollnik, Bernd
Zdroj: In Molecular Genetics and Metabolism Reports December 2023 37
Databáze: ScienceDirect