Yayıncı "ASEAN Neurological Association" Makale Koleksiyonu için listeleme
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Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene
(ASEAN Neurological Association, 2020)Nonketotic hyperglycinemia (NKH) is caused by defects in the glycine cleavage system. Hyperglycinemia without biallelic mutations in one of the 4 genes that encode the constituents of the glycine cleavage system is classified ...