Gramer, G.* ; Wortmann, S. ; Fang-Hoffmann, J.* ; Kohlmüller, D.* ; Okun, J.G.* ; Prokisch, H. ; Meitinger, T.* ; Hoffmann, G.F.*
New cases of maleylacetoacetate isomerase deficiency with detection by newborn screening and natural history over 32 years: Experience from a German newborn screening center.
Int. J. Neonatal Screen. 10:17 (2024)