Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia

por Lotz-Havla, Amelie S., Christmann, Tara, Parhofer, Klaus G., Maier, Esther M., Havla, Joachim
Publicado 2023

What are effects of a spaced activation of virtual patients in a pediatric course?

por Maier, Esther M, Hege, Inga, Muntau, Ania C, Huber, Johanna, Fischer, Martin R
Publicado 2013

Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria

por Lotz-Havla, Amelie S., Katzdobler, Sabrina, Nuscher, Brigitte, Weiß, Katharina, Levin, Johannes, Havla, Joachim, Maier, Esther M.
Publicado 2022

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

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

por Karall, Daniela, Brunner-Krainz, Michaela, Kogelnig, Katharina, Konstantopoulou, Vassiliki, Maier, Esther M, Möslinger, Dorothea, Plecko, Barbara, Sperl, Wolfgang, Volkmar, Barbara, Scholl-Bürgi, Sabine
Publicado 2015

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

por Maier, Esther M., Gersting, Søren W., Kemter, Kristina F., Jank, Johanna M., Reindl, Maria, Messing, Dunja D., Truger, Marietta S., Sommerhoff, Christian P., Muntau, Ania C.
Publicado 2009

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

Retinal axonal degeneration in Niemann–Pick type C disease

por Havla, Joachim, Moser, Marlene, Sztatecsny, Clara, Lotz-Havla, Amelie S., Maier, Esther M., Hizli, Baccara, Schinner, Regina, Kümpfel, Tania, Strupp, Michael, Bremova-Ertl, Tatiana, Schneider, Susanne A.
Publicado 2020

The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase

por Jank, Johanna M., Maier, Esther M., Reiß, Dunja D., Haslbeck, Martin, Kemter, Kristina F., Truger, Marietta S., Sommerhoff, Christian P., Ferdinandusse, Sacha, Wanders, Ronald J., Gersting, Søren W., Muntau, Ania C.
Publicado 2014

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

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

por Koch, Johannes, Freisinger, Peter, Feichtinger, René G, Zimmermann, Franz A, Rauscher, Christian, Wagentristl, Hans P, Konstantopoulou, Vassiliki, Seidl, Rainer, Haack, Tobias B, Prokisch, Holger, Ahting, Uwe, Sperl, Wolfgang, Mayr, Johannes A, Maier, Esther M
Publicado 2015

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

por Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, í Dali, Christine
Publicado 2020

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

por Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, Dali, Christine í
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

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment...

por Mengel, Eugen, Patterson, Marc C., Da Riol, Rosalia M., Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Harmatz, Paul, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki‐Szymanska, Anna, Day, Simon, Andreasen, Anne Katrine, Geist, Marie Aavang, Havnsøe Torp Petersen, Nikolaj, Ingemann, Linda, Hansen, Thomas, Blaettler, Thomas, Kirkegaard, Thomas, í Dali, Christine
Publicado 2021

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

por Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Publicado 2017