Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins

por Buentzel, Judith, Vilardi, Fabio, Lotz-Havla, Amelie, Gärtner, Jutta, Thoms, Sven
Publicado 2015

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

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

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency

por Lotz-Havla, Amelie S., Woidy, Mathias, Guder, Philipp, Schmiesing, Jessica, Erdmann, Ralf, Waterham, Hans R., Muntau, Ania C., Gersting, Søren W.
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

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

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

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

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

por Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, De Laet, Corinne, Leuzzi, Vincenzo, Rutsch, Frank, Sivri, H. Serap, Vijay, Suresh, Bal, Milva Orquidea, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelie S., Munafo, Alain, Mould, Diane R., Moreau-Stucker, Flavie, Rogoff, Daniela
Publicado 2017

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

por Rüegger, Corinne M., Lindner, Martin, Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Das, Anibh, Gautschi, Matthias, Glahn, Esther M., Grünert, Sarah C., Hennermann, Julia, Hochuli, Michel, Huemer, Martina, Karall, Daniela, Kölker, Stefan, Lachmann, Robin H., Lotz-Havla, Amelie, Möslinger, Dorothea, Nuoffer, Jean-Marc, Plecko, Barbara, Rutsch, Frank, Santer, René, Spiekerkoetter, Ute, Staufner, Christian, Stricker, Tamar, Wijburg, Frits A., Williams, Monique, Burgard, Peter, Häberle, Johannes
Publicado 2013

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

por Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin
Publicado 2014