Gramer, Gwendolyn ; Wortmann, Saskia B. ; Fang-Hoffmann, Junmin ; Kohlmüller, Dirk ; Okun, Jürgen G. ; Prokisch, Holger ; Meitinger, Thomas ; Hoffmann, Georg F.
Titel:
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
Stichworte:
Article ; newborn screening ; tyrosinemia type I ; succinylacetone ; maleylacetoacetate isomerase deficiency ; GSTZ1
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