Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung – am Beispiel der angeborenen Stoffwechselerkrankungen

por Mütze, Ulrike, Kölker, Stefan
Publicado 2023

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

por Kölker, Stefan, Gleich, Florian, Mütze, Ulrike, Opladen, Thomas
Publicado 2022

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

Opportunities and challenges in machine learning‐based newborn screening—A systematic literature review

por Zaunseder, Elaine, Haupt, Saskia, Mütze, Ulrike, Garbade, Sven F., Kölker, Stefan, Heuveline, Vincent
Publicado 2022

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany

por Murko, Simona, Aseman, Asra Dadkhah, Reinhardt, Friederike, Gramer, Gwendolyn, Okun, Jürgen Günther, Mütze, Ulrike, Santer, René
Publicado 2022

Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria

por Zaunseder, Elaine, Mütze, Ulrike, Garbade, Sven F., Haupt, Saskia, Feyh, Patrik, Hoffmann, Georg F., Heuveline, Vincent, Kölker, Stefan
Publicado 2023

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

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

Maternal Vitamin B(12) Deficiency Detected by Newborn Screening—Evaluation of Causes and Characteristics

por Reischl-Hajiabadi, Anna T., Garbade, Sven F., Feyh, Patrik, Weiss, Karl Heinz, Mütze, Ulrike, Kölker, Stefan, Hoffmann, Georg F., Gramer, Gwendolyn
Publicado 2022

Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening

por Mütze, Ulrike, Nennstiel, Uta, Odenwald, Birgit, Haase, Claudia, Ceglarek, Uta, Janzen, Nils, Garbade, Sven F., Hoffmann, Georg F., Kölker, Stefan, Haas, Dorothea
Publicado 2022

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

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observationa...

por de Lonlay, Pascale, Posset, Roland, Mütze, Ulrike, Mention, Karine, Lamireau, Delphine, Schiff, Manuel, Servais, Aude, Arnoux, Jean Baptiste, Brassier, Anaïs, Dao, Myriam, Douillard, Claire, Ottolenghi, Chris, Pontoizeau, Clément, Miotto, Federica, Le Mouhaër, Jeannie
Publicado 2021

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

por 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
Publicado 2022