Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

by Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier
Published 2018-07-01

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injection...

by Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier
Published 2021-05-01

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 1...

by Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier
Published 2021-09-01

Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?

by Joachim Havla, Thivya Pakeerathan, Carolin Schwake, Jeffrey L. Bennett, Ingo Kleiter, Ana Felipe-Rucián, Stephanie C. Joachim, Amelie S. Lotz-Havla, Tania Kümpfel, Markus Krumbholz, Eva M. Wendel, Markus Reindl, Charlotte Thiels, Thomas Lücke, Kerstin Hellwig, Ralf Gold, Kevin Rostasy, Ilya Ayzenberg
Published 2021-05-01