Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Majid Alfadhel, Marwan Nashabat, Hanan Al Qahtani, Ahmed Alfares, Fuad Al Mutairi, Hesham Al Shaalan, Ganka V. Douglas, Klaas Wierenga, Jane Juusola, Muhammad Talal Alrifai, Stefan T. Arold, Fowzan Alkuraya, Qais Abu Ali

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Medicine & Life Sciences