斯洛文尼亚两名酪氨酸血症 1 型患者的临床和遗传特征 - 一种新的富马酸乙酰乙酸水解酶 ( FAH ) 内含子致病变种。
关键词: AFP, alpha-fetoprotein ALP, alkaline phosphatase ALT, alanine transaminase AST, aspartate transaminase DBS, dried blood spot Dried blood spot FAH, fumarylacetoacetate hydrolase Fumarylacetoacetate hydrolase GGT, gamma glutamyl transferase HT1, tyrosinemia type 1 INR, international normalized ratio Intronic variant MS/MS, tandem mass spectrometry NBS, newborn screening NTBC, nitisinone Nitisinone PTT, partial thromboplastin time RF, reference range SA, succinylacetone Succinylacetone Tyrosinemia AFP, alpha-fetoprotein ALP, alkaline phosphatase ALT, alanine transaminase AST, aspartate transaminase DBS, dried blood spot Dried blood spot FAH, fumarylacetoacetate hydrolase Fumarylacetoacetate hydrolase GGT, gamma glutamyl transferase HT1, tyrosinemia type 1 INR, international normalized ratio Intronic variant MS/MS, tandem mass spectrometry NBS, newborn screening NTBC, nitisinone Nitisinone PTT, partial thromboplastin time RF, reference range SA, succinylacetone Succinylacetone Tyrosinemia
来 源:
DOI:10.1016/j.ymgmr.2021.100836
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