Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

por Molema, Femke, Martinelli, Diego, Hörster, Friederike, Kölker, Stefan, Tangeraas, Trine, de Koning, Barbara, Dionisi‐Vici, Carlo, Williams, Monique
Publicado 2020

Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study

por Kovacevic, Alexander, Garbade, Sven F., Hörster, Friederike, Hoffmann, Georg F., Gorenflo, Matthias, Mereles, Derliz, Kölker, Stefan, Staufner, Christian
Publicado 2023

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

por Tesorero, Rafael, Janda, Joachim, Hörster, Friederike, Feyh, Patrik, Mütze, Ulrike, Hauke, Jana, Schwarz, Kathrin, Kunz, Joachim B., Hoffmann, Georg F., Okun, Jürgen G.
Publicado 2023

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

por Schnabel, Elena, Kölker, Stefan, Gleich, Florian, Feyh, Patrik, Hörster, Friederike, Haas, Dorothea, Fang-Hoffmann, Junmin, Morath, Marina, Gramer, Gwendolyn, Röschinger, Wulf, Garbade, Sven F., Hoffmann, Georg F., Okun, Jürgen G., Mütze, Ulrike
Publicado 2023

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

por Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.
Publicado 2021

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

por Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam
Publicado 2014

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

por Speckmann, Carsten, Nennstiel, Uta, Hönig, Manfred, Albert, Michael H., Ghosh, Sujal, Schuetz, Catharina, Brockow, Inken, Hörster, Friederike, Niehues, Tim, Ehl, Stephan, Wahn, Volker, Borte, Stephan, Lehmberg, Kai, Baumann, Ulrich, Beier, Rita, Krüger, Renate, Bakhtiar, Shahrzad, Kuehl, Joern-Sven, Klemann, Christian, Kontny, Udo, Holzer, Ursula, Meinhardt, Andrea, Morbach, Henner, Naumann-Bartsch, Nora, Rothoeft, Tobias, Kreins, Alexandra Y., Davies, E. Graham, Schneider, Dominik T., Bernuth, Horst v., Klingebiel, Thomas, Hoffmann, Georg F., Schulz, Ansgar, Hauck, Fabian
Publicado 2023

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

por Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.
Publicado 2017