Ten years of specialized adult care for phenylketonuria – a single-centre experience

por Mütze, Ulrike, Thiele, Alena Gerlinde, Baerwald, Christoph, Ceglarek, Uta, Kiess, Wieland, Beblo, Skadi
Publicado 2016

Psychological well‐being of early and continuously treated phenylketonuria patients

por Thiele, Alena Gerlinde, Spieß, Nicole, Ascherl, Rudolf, Arelin, Maria, Rohde, Carmen, Kiess, Wieland, Beblo, Skadi
Publicado 2021

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

por Klau, Julia, Abou Jamra, Rami, Radtke, Maximilian, Oppermann, Henry, Lemke, Johannes R., Beblo, Skadi, Popp, Bernt
Publicado 2021

The challenge of long-term tetrahydrobiopterin (BH(4)) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply

por Thiele, Alena G., Rohde, Carmen, Mütze, Ulrike, Arelin, Maria, Ceglarek, Uta, Thiery, Joachim, Baerwald, Christoph, Kiess, Wieland, Beblo, Skadi
Publicado 2015

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with m...

por Mütze, Ulrike, Bürger, Friederike, Hoffmann, Jessica, Tegetmeyer, Helmut, Heichel, Jens, Nickel, Petra, Lemke, Johannes R, Syrbe, Steffen, Beblo, Skadi
Publicado 2016

Dietary and metabolic effects on the oral status of patients with phenylketonuria: a nation-based cross-sectional study

por Bingöl, Anne Carolin, Bingöl, Memduh, Pandis, Nikolaos, Stolz, Simone, Beblo, Skadi, Jost-Brinkmann, Paul-Georg, Mönch, Eberhard, Bartzela, Theodosia
Publicado 2023

Metabolomics of Dietary Fatty Acid Restriction in Patients with Phenylketonuria

por Mütze, Ulrike, Beblo, Skadi, Kortz, Linda, Matthies, Claudia, Koletzko, Berthold, Bruegel, Mathias, Rohde, Carmen, Thiery, Joachim, Kiess, Wieland, Ceglarek, Uta
Publicado 2012

Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?

por Rohde, Carmen, Thiele, Alena Gerlinde, Och, Ulrike, Schönherr, Katrin, Meyer, Uta, Rosenbaum-Fabian, Stefanie, Maddalon, Cornelia, Matzken, Sabine, Blessing, Holger, Lang, Frauke, Jörg-Streller, Monika, Beblo, Skadi
Publicado 2015

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

por Unsinn, Caroline, Das, Anibh, Valayannopoulos, Vassili, Thimm, Eva, Beblo, Skadi, Burlina, Alberto, Konstantopoulou, Vassiliki, Mayorandan, Sebene, de Lonlay, Pascale, Rennecke, Jörg, Derbinski, Jens, Hoffmann, Georg F., Häberle, Johannes
Publicado 2016

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

por Rohde, Carmen, Thiele, Alena Gerlinde, Baerwald, Christoph, Ascherl, Rudolf Georg, Lier, Dinah, Och, Ulrike, Heller, Christina, Jung, Alexandra, Schönherr, Kathrin, Joerg-Streller, Monika, Luttat, Simone, Matzgen, Sabine, Winkler, Tina, Rosenbaum-Fabian, Stefanie, Joos, Oxana, Beblo, Skadi
Publicado 2021

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

por Bärhold, Friederike, Meyer, Uta, Neugebauer, Anne-Kathrin, Thimm, Eva Maria, Lier, Dinah, Rosenbaum-Fabian, Stefanie, Och, Ulrike, Fekete, Anna, Möslinger, Dorothea, Rohde, Carmen, Beblo, Skadi, Hochuli, Michel, Bogovic, Nina, Korpel, Vanessa, vom Dahl, Stephan, Mayorandan, Sebene, Fischer, Aleksandra, Freisinger, Peter, Dokoupil, Katharina, Heddrich-Ellerbrok, Margret, Jörg-Streller, Monika, van Teeffelen-Heithoff, Agnes, Lahl, Janina, Das, Anibh Martin
Publicado 2020

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

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

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

por Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver
Publicado 2013

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

por Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2022