Immunoadsorption or plasma exchange in steroid‐refractory multiple sclerosis and neuromyelitis optica by Lipphardt, Mark, Mühlhausen, Johannes, Kitze, Bernd, Heigl, Franz, Mauch, Erich, Helms, Hans‐Joachim, Müller, Gerhard A., Koziolek, Michael J.

Get full text

Predictors of Renal Replacement Therapy in Acute Kidney Injury by Koziolek, Michael J., Datta, Rabi R., Mattes, Harry, Jung, Klaus, Heise, Daniel, Streich, Jan H., Mühlhausen, Johannes, Mueller, Gerhard A., Dihazi, Hassan

Get full text

Apheresis in treatment of acute inflammatory demyelinating disorders by Mühlhausen, Johannes, Kitze, Bernd, Huppke, Peter, Müller, Gerhard A., Koziolek, Michael J.

Get full text

Immunoadsorption in steroid-refractory multiple sclerosis by Koziolek, Michael J., Kitze, Bernd, Mühlhausen, Johannes, Müller, Gerhard A.

Get full text

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

Get full text

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision by Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A., Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F., Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B., Lindner, Martin, Märtner, E. M. Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G., Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, vom Dahl, Stephan, Ziagaki, Athanasia, Zschocke, Johannes, Kölker, Stefan

Get full text

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium by Mütze, Ulrike, Gleich, Florian, Barić, Ivo, Baumgartner, Mathias, Burlina, Alberto, Chapman, Kimberly A., Chien, Yin‐Hsiu, Cortès‐Saladelafont, Elisenda, De Laet, Corinne, Dobbelaere, Dries, Eysken, Francois, Gautschi, Matthias, Santer, Rene, Häberle, Johannes, Joaquín, Clara, Karall, Daniela, Lindner, Martin, Lund, Allan M., Mühlhausen, Chris, Murphy, Elaine, Roland, Dominique, Ruiz Gomez, Angeles, Skouma, Anastasia, Grünert, Sarah C., Wagenmakers, Margreet, Garbade, Sven F., Kölker, Stefan, Boy, Nikolas

Get full text

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

Get full text

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision by Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Heringer, Jana, Assmann, Birgit, Burgard, Peter, Dixon, Marjorie, Fleissner, Sandra, Greenberg, Cheryl R., Harting, Inga, Hoffmann, Georg F., Karall, Daniela, Koeller, David M., Krawinkel, Michael B., Okun, Jürgen G., Opladen, Thomas, Posset, Roland, Sahm, Katja, Zschocke, Johannes, Kölker, Stefan

Get full text

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I by Harting, Inga, Neumaier-Probst, Eva, Seitz, Angelika, Maier, Esther M., Assmann, Birgit, Baric, Ivo, Troncoso, Monica, Mühlhausen, Chris, Zschocke, Johannes, Boy, Nikolas P. S., Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan

Get full text

Impact of age at onset and newborn screening on outcome in organic acidurias by Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Barić, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., i Saladelafont, Elisenda Cortès, Karall, Daniela, Mühlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Kölker, Stefan

Get full text

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria by Grohmann‐Held, Karina, Burgard, Peter, Baerwald, Christoph G. O., Beblo, Skadi, Dahl, Stephan, Das, Anibh, Dokoupil, Katharina, Fleissner, Sandra, Freisinger, Peter, Heddrich‐Ellerbrok, Margret, Jung, Alexandra, Korpel, Vanessa, Krämer, Johannes, Lier, Dinah, Maier, Esther M., Meyer, Uta, Mühlhausen, Chris, Newger, Martha, Och, Ulrike, Plöckinger, Ursula, Rosenbaum‐Fabian, Stefanie, Rutsch, Frank, Santer, René, Schick, Petra, Schwarz, Martin, Spiekerkötter, Ute, Strittmatter, Ursula, Thiele, Alena G., Ziagaki, Athanasia, Mütze, Ulrike, Gleich, Florian, Garbade, Sven F., Kölker, Stefan

Get full text

Use of guidelines improves the neurological outcome in glutaric aciduria type I by Heringer, Jana, Boy, S. P. Nikolas, Ensenauer, Regina, Assmann, Birgit, Zschocke, Johannes, Harting, Inga, Lücke, Thomas, Maier, Esther M., Mühlhausen, Chris, Haege, Gisela, Hoffmann, Georg F., Burgard, Peter, Kölker, Stefan

Get full text

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases by Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn E., Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Kölker, Stefan, Burgard, Peter, Berry, Susan A., Burrage, Lindsay, Coughlin, Curtis, Diaz, George A., Gallagher, Renata C., Gropman, Andrea, Harding, Cary O., Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J., Nagamani, Sandesh C. S., Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Bari, Ivo, Bosch, Annet M., Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L., Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M., Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H., Williams, Monique, Zeman, Jiri

Get full text

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders by Posset, Roland, Garcia-Cazorla, Angeles, Valayannopoulos, Vassili, Teles, Elisa Leão, Dionisi-Vici, Carlo, Brassier, Anaïs, Burlina, Alberto B., Burgard, Peter, Cortès-Saladelafont, Elisenda, Dobbelaere, Dries, Couce, Maria L., Sykut-Cegielska, Jolanta, Häberle, Johannes, Lund, Allan M., Chakrapani, Anupam, Schiff, Manuel, Walter, John H., Zeman, Jiri, Vara, Roshni, Kölker, Stefan

Get full text

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants by Wortmann, Saskia B, Feichtinger, Rene G, Abela, Lucia, van Gemert, Loes A, Aubart, Mélodie, Dufeu-Berat, Claire-Marine, Boddaert, Nathalie, de Coo, Rene, Stühn, Lara, Hebbink, Jasmijn, Heinritz, Wolfram, Hildebrandt, Julia, Himmelreich, Nastassja, Korenke, Christoph, Lehman, Anna, Leyland, Thomas, Makowski, Christine, Martinez Marin, Rafael Jenaro, Marzin, Pauline, Mühlhausen, Chris, Rio, Marlène, Rotig, Agnes, Roux, Charles-Joris, Schiff, Manuel, Haack, Tobias B, Syrbe, Steffen, Zylicz, Stas A, Thiel, Christian, Veiga da Cunha, Maria, van Schaftingen, Emile, Wagner, Matias, Mayr, Johannes A, Wevers, Ron A, Boltshauser, Eugen, Willemsen, Michel A

Get full text

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency by Engel, Katharina, Nuoffer, Jean-Marc, Mühlhausen, Chris, Klaus, Vera, Largiadèr, Carlo R., Tsiakas, Konstantinos, Santer, René, Wermuth, Bendicht, Häberle, Johannes

Get full text

TMEM165 Deficiency: Postnatal Changes in Glycosylation by Schulte Althoff, S., Grüneberg, M., Reunert, J., Park, J. H., Rust, S., Mühlhausen, C., Wada, Y., Santer, R., Marquardt, T.

Get full text

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents by Zeltner, Nina A., Landolt, Markus A., Baumgartner, Matthias R., Lageder, Sarah, Quitmann, Julia, Sommer, Rachel, Karall, Daniela, Mühlhausen, Chris, Schlune, Andrea, Scholl-Bürgi, Sabine, Huemer, Martina

Get full text

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases by Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Ah Mew, Nicholas, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter

Get full text