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

por Lotz-Havla, Amelie S., Röschinger, Wulf, Schiergens, Katharina, Singer, Katharina, Karall, Daniela, Konstantopoulou, Vassiliki, Wortmann, Saskia B., Maier, Esther M.
Publicado 2018

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

por Lotz-Havla, Amelie S., Weiß, Katharina J., Schiergens, Katharina A., Brunet, Theresa, Kohlhase, Jürgen, Regenauer-Vandewiele, Stephanie, Maier, Esther M.
Publicado 2021

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency

por Lotz-Havla, Amelie S., Weiß, Katharina, Schiergens, Katharina, Regenauer-Vandewiele, Stephanie, Parhofer, Klaus G., Christmann, Tara, Böhm, Luise, Havla, Joachim, Maier, Esther M.
Publicado 2021

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...

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

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

por Spenger, Johannes, Maier, Esther M., Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A., Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B., Fingerhut, Ralph
Publicado 2021

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32

por Spenger, Johannes, Maier, Esther M., Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A., Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B., Fingerhut, Ralph
Publicado 2021

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

por Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas
Publicado 2021

Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

por Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas
Publicado 2021