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

door Mütze, Ulrike, Thiele, Alena Gerlinde, Baerwald, Christoph, Ceglarek, Uta, Kiess, Wieland, Beblo, Skadi
Gepubliceerd in Orphanet J Rare Dis (2016)

Psychological well‐being of early and continuously treated phenylketonuria patients

door Thiele, Alena Gerlinde, Spieß, Nicole, Ascherl, Rudolf, Arelin, Maria, Rohde, Carmen, Kiess, Wieland, Beblo, Skadi
Gepubliceerd in JIMD Rep (2021)

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

door Thiele, Alena G., Rohde, Carmen, Mütze, Ulrike, Arelin, Maria, Ceglarek, Uta, Thiery, Joachim, Baerwald, Christoph, Kiess, Wieland, Beblo, Skadi
Gepubliceerd in Mol Genet Metab Rep (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...

door Mütze, Ulrike, Bürger, Friederike, Hoffmann, Jessica, Tegetmeyer, Helmut, Heichel, Jens, Nickel, Petra, Lemke, Johannes R, Syrbe, Steffen, Beblo, Skadi
Gepubliceerd in Mol Genet Metab Rep (2016)

Metabolomics of Dietary Fatty Acid Restriction in Patients with Phenylketonuria

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

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

door 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
Gepubliceerd in Mol Genet Metab Rep (2015)

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

door 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
Gepubliceerd in Orphanet J Rare Dis (2016)

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

door 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
Gepubliceerd in Nutrients (2020)

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

door 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
Gepubliceerd in 2013

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

door Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann, Hauke, Al-Sannaa, Nouriya Abbas, Hinrichs, Frauke, Affan, Rabea, Navot, Nir, Al Balwi, Mohammed A., Oprea, Gabriela, Holla, Øystein L., Weiss, Maximilian E.R., Jamra, Rami A., Kahlert, Anne-Karin, Kishore, Shivendra, Tveten, Kristian, Vos, Melissa, Rolfs, Arndt, Lohmann, Katja
Gepubliceerd in Am J Hum Genet (2019)

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

door 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
Gepubliceerd in 2013

Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4

door Hildick-Smith, Gordon J., Cooney, Jeffrey D., Garone, Caterina, Kremer, Laura S., Haack, Tobias B., Thon, Jonathan N., Miyata, Non, Lieber, Daniel S., Calvo, Sarah E., Akman, H. Orhan, Yien, Yvette Y., Huston, Nicholas C., Branco, Diana S., Shah, Dhvanit I., Freedman, Matthew L., Koehler, Carla M., Italiano, Joseph E., Merkenschlager, Andreas, Beblo, Skadi, Strom, Tim M., Meitinger, Thomas, Freisinger, Peter, Donati, M. Alice, Prokisch, Holger, Mootha, Vamsi K., DiMauro, Salvatore, Paw, Barry H.
Gepubliceerd in 2013